UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked...
Transcript of UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked...
![Page 1: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/1.jpg)
UNIT 8 – Human Genetics
Quiz 1-30/31
Test Tues. Feb 5
![Page 2: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/2.jpg)
I. HUMAN GENETICS (pp. 341-343)
A. Human Somatic Cells
Human somatic cells (____ cells) are ______ or __. Each cell contains ___ chromosomes, or ___ pairs of chromosomes. Of these pairs of chromosomes, ___ pairs are ____________ pairs, meaning they contain the same genes in the same order.
bodydiploid 2n 46
23
22homologous
![Page 3: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/3.jpg)
A. Human Somatic Cells
The 44 chromosomes that make up the
22 homologous pairs in each cell are
called _________. The 23rd pair of
chromosomes are the ____
chromosomes. In female somatic
cells, the sex chromosomes are ___; in
a male’s cells, the sex chromosomes
are ___.
autosomes
sex
XX
XY
![Page 4: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/4.jpg)
B. Human Gametes
Gametes are _______, or __, and contain
___ chromosomes. Female gametes
are _____ cells and male gametes are
______cells. Gametes are produced
through the process of ________ in
the _______ or ______, respectively.
haploid n
23
eggsperm
meiosis
ovaries testes
![Page 5: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/5.jpg)
B. Human Gametes
In meiosis, when the ___________ pairs of
chromosomes separate in ___________, the
sex chromosomes separate also. The
resulting egg cell can only contain an __
chromosome, while the sperm cell produced
has a ___% chance of containing a ___ and
a ___% chance of containing an __.
Therefore, the _____ determines the sex of
the offspring.
homologous
anaphase I
X
50 Y
50 Xmale
![Page 6: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/6.jpg)
C. Analyzing Human Chromosome Numbers
1. Nondisjunction - Abnormal numbers of chromosomes in ______ result in genetic disorders called ___________. This must often is a result of ____________, which means ______________.
gametes
number disorders
nondisjunction
“not coming apart”
![Page 7: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/7.jpg)
Nondisjunction
⚫ In Anaphase I if homologous pairs do not
separate correctly
⚫ In Anaphase II if sister chromatids do not
separate correctly
⚫ In either case, Gametes are produced with
an abnormal number of chromosomes.
Number disorders are not inherited; therefore, they cannot
be predicted with Punnett squares.
![Page 8: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/8.jpg)
C. Analyzing Human Chromosome Numbers
2. Karyotypes - A karyotype is a photograph of ____________________.
Cells from the developing embryo or individual being tested are cultured in a nutrient growth medium, and then chemically treated to stop _________ in metaphase. The cells are stained, the chromosomes photographed, and the photograph is enlarged.
chromosome pairs
mitosis
![Page 9: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/9.jpg)
C. Analyzing Human Chromosome Numbers
The chromosomes are cut out and
arranged in ____________ pairs in size
order, with the ____ chromosomes
making up the 23rd pair. Karyotypes
can only be used to detect _________
disorders and to determine the
________ of an unborn child.
homologous
sex
number
gender
![Page 10: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/10.jpg)
C. Analyzing Human Chromosome Numbers
They do not detect abnormal _______;
therefore, a normal karyotype does not
guarantee a ______ child!
genes
normal
![Page 11: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/11.jpg)
II. HUMAN GENETIC DISORDERS –NUMBER DISORDERS (pp. 352, 353)
A. Autosomal Number Disorders
Most autosomal number disorders are
_____. The only autosomal number
disorder that allows survival into
adulthood is
___________________________.
lethal
Down syndrome
![Page 12: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/12.jpg)
Is there a problem with this karotype
![Page 13: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/13.jpg)
A. Autosomal Number Disorders Down syndrome
Down syndrome is also known as
__________ because there are
___ chromosomes at the ____
position, instead of _______.
trisomy 213 21st
2
![Page 14: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/14.jpg)
Down Syndrome
![Page 15: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/15.jpg)
![Page 16: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/16.jpg)
Autosomal Number Disorders Down syndrome
Individuals have characteristic facial
features; growth, behavior, and mental
development are all affected. There is
also a higher risk of _________ heart
defects. The incidence of babies with
Down syndrome is much higher in
______ mothers.
congenital
older
![Page 17: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/17.jpg)
Patau Syndrome (Trisomy 13)
![Page 18: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/18.jpg)
Trisomy 13
⚫ Cleft lip or palate
⚫ Clenched hands (with outer fingers on top of the inner fingers)
⚫ Close-set eyes -- eyes may actually fuse together into one
⚫ Extra fingers or toes (polydactyly)
⚫ Hole, split, or cleft in the iris (coloboma)
⚫ Low-set ears
⚫ Mental retardation, severe
⚫ Scalp defects (missing skin)
⚫ Seizures
⚫ Single palmar crease
⚫ Skeletal (limb) abnormalities
⚫ Small head (microcephaly)
⚫ Can have 3 types– One extra 13th chromosome in all cells
– Trisomy 13 mosaicism-Extra 13 only in some cells, caused by mitosis after fertilization
– Partial Trisomy-due to translocation presence of a part of extra chromosome 13 in all cells
![Page 19: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/19.jpg)
![Page 20: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/20.jpg)
Edwards or Trisomy 18
![Page 21: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/21.jpg)
Edward’s Syndrome (Trisomy 18)
⚫ Symptoms
⚫ Clenched hands
⚫ Crossed legs (preferred position)
⚫ Feet with a rounded bottom (rocker-bottom feet)
⚫ Low birth weight
⚫ Low-set ears
⚫ Mental deficiency
⚫ Small head (microcephaly)
⚫ Small jaw (micrognathia)
⚫ Underdeveloped fingernails
⚫ Undescended testicle
⚫ Unusual shaped chest (pectus carinatumTrisomy 18 is a relatively common syndrome. It is three times more common in girls than boys. The syndrome is caused by the presence of extra material from chromosome 18. The extra material interferes with normal development.
⚫ Can also be Full Trisomy 18, Partial Trisomy 18, or Mosaicism
![Page 22: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/22.jpg)
![Page 23: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/23.jpg)
Is there a problem with this karyotype?
![Page 24: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/24.jpg)
B. Sex Chromosome Number Disorders
1. Turner Syndrome
Also called ______ because individuals lack __________________. Affected individuals are _______, typically short in stature, underdeveloped sexually, with a normal life expectancy.
* Generally infertile
45 XO2nd sex chromosome
female
![Page 25: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/25.jpg)
Turner’s Syndrome
![Page 26: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/26.jpg)
Does this individual have a number disorder?
![Page 27: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/27.jpg)
B. Sex Chromosome Number Disorders
2. Klinefelter Syndrome
Also called ________. Symptoms do not
appear until ________ at which time
affected _________ show poor sexual
development and infertility. Treated
with __________. Normal life
expectancy.
47 XXYpuberty
males
testosterone
![Page 28: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/28.jpg)
⚫ Klienfelter’s
Syndrome
![Page 29: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/29.jpg)
III. ANALYSIS OF HUMAN INHERITANCE
A. Punnett Squares & Multiple Alleles (pp.
345-346)
A multiple alleles gene has that is,
___________ alleles. An example of this is
ABO blood groups. There are ____ alleles
for this gene.
more than 2
3
![Page 30: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/30.jpg)
. Punnett Squares & Multiple Alleles (pp. 345-346)
_______ are co-dominant, meaning ______________ if present. The third allele, ____, is recessive, meaning it will only show if the genotype is ___.
A and B
they always show
i (o)
ii
![Page 31: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/31.jpg)
ABO Blood Types
![Page 32: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/32.jpg)
Punnett Squares & Multiple Alleles (pp. 345-346)
The possibilities for blood group genotypes and
phenotypes are:
Phenotypes Genotypes
Type A blood _____________
Type B blood _____________
Type AB blood _____________
Type O blood _____________ii
I I or I iA A A
I I or I iB B B
I IA B
![Page 33: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/33.jpg)
B. Pedigrees
⚫ A pedigree is a diagram that follows the
inheritance of a single _____ through several
____________ of a family.
⚫ males are represented by ________ and
females, by _______.
⚫ Individuals with the trait are represented
with ________ figures.
traitgenerations
squares
circles
shaded
![Page 34: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/34.jpg)
B. Pedigrees
⚫ Vertical lines connect _______ and
_______. Horizontal lines connect
_________ or _________.
⚫ Children are placed in __________,
from _________.
parents
children
spouses siblings
birth order
left to right
![Page 35: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/35.jpg)
IV. INHERITED HUMAN GENETIC DISORDERS
A. Gene Mutations
Inherited human genetic disorders are
the result of gene mutations; that is,
______________________________. a change in the DNA sequence of the gene
![Page 36: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/36.jpg)
IV. INHERITED HUMAN GENETIC DISORDERS
B. Types of Inherited Genetic
Disorders
1. Sex-Linked Disorders – Mutated
gene is on the ____ chromosome.
2. Autosomal Genetic Disorders –
Gene mutation is on any chromosome
other than ________________
X
sex chromosomes
![Page 37: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/37.jpg)
V. GENETIC DISORDERS - SEX-LINKED DISORDERS
A. Sex-Linked Inheritance (pp.350, 351)
A gene is referred to as “sex-linked” if it is
located on a sex chromosome (______). In
humans, sex-linked genes are almost always
located on the larger ___ chromosome. The
__ chromosome is much smaller and carries
only a few genes related to
_________________________.
X or Y
X
Y
male sexual development
![Page 38: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/38.jpg)
A. Sex-Linked Inheritance (pp.350, 351)
Females have __ X chromosomes; males have ____. Females will only show recessive traits located on the X chromosome if they are ______________________. But a male will always show a recessive trait located on the X chromosome because he only has _____ X chromosome, so all _______ on the X chromosome will show.
This results in _________ having a much higher incidence of sex-linked disorders.
2 one
homozygous recessive
onegenes
males
![Page 39: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/39.jpg)
A. Sex-Linked Inheritance 1. Genotypes
⚫ Genotypes for sex-linked traits are written using the Xand Y chromosomes to show path of inheritance.
⚫ Male-pattern baldness is a sex-linked recessive trait. If H = normal head of hair and h = baldness– bald male = _____; bald female = _____.
– Females can be _______ for sex-linked recessive disorders. A carrier has the defective allele, but ______________. The genotype of a female carrier is ______.
– Males _______ be carriers for sex-linked traits because their 2nd sex chromosome is the _______!
carriers
it does not show
cannot
naked Y
X Yh
X Xh h
X XhH
![Page 40: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/40.jpg)
Male Baldness
![Page 41: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/41.jpg)
2. Sex-Linked Punnett Squares
In sex-linked traits, probabilities for male
and female offspring must be calculated
separately because traits are inherited differently.
If a man with a full head of hair marries a
woman who is heterozygous, what is the
probability they would have a son who would
go bald? A daughter?
![Page 42: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/42.jpg)
B. Sex-Linked Disorders
All of these disorders are sex-linked
___________________.
1. Color Blindness – Inability to
differentiate and distinguish
___________________.
recessive
colors
![Page 43: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/43.jpg)
Results For Ishihara Test(above)
Normal Color Vision Red-Green Color Blind
Left Right Left Right
Top 25 29 Top 25 Spots
Middle 45 56 Middle Spots 56
Bottom 6 8 Bottom Spots Spots
![Page 44: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/44.jpg)
B. Sex-Linked Disorders
2. Hemophilia –
⚫ Missing an enzyme required for
normal ____________ -
⚫ results in ____________
⚫ Treated with blood transfusions,
injections of missing factor.
blood clotting
uncontrolled bleeding
![Page 45: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/45.jpg)
Gene Therapy for Hemophilia
![Page 46: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/46.jpg)
B. Sex-Linked Disorders
⚫ 3. Duchenne’s Muscular Dystrophy
– Symptoms develop at ___________.
⚫ Muscles ______________________,
leading to eventual death.
⚫ No available __________ or ______.
Death usually occurs before adulthood.
3-6 years
weaken, break down
treatment cure
![Page 47: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/47.jpg)
DMD
![Page 48: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/48.jpg)
![Page 49: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/49.jpg)
![Page 50: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/50.jpg)
VI. GENETIC DISORDERS - AUTOSOMAL DISORDERS (pp. 345-348)
More common than sex-linked disorders
because
__________________________________.
These disorders affect males and females
________ and are due to _____ mutations.
Autosomal disorders can be divided into
three groups based on the pattern of
inheritance.
geneequally
most genes are carried on the autosomes
![Page 51: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/51.jpg)
Autosomal Recessive Disorderd
1. Albinism
1. Characterized by failure to
produce pigment,_____________
2. Very susceptible to __________________
melanin
UV rays
![Page 52: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/52.jpg)
Autosomal Recessive Disorders
⚫ Cystic Fibrosis
– Characterized by excess _______________ in ________,
_________________system.
– Symptoms appear just after birth and include frequent
respiratory infections poor nutrition.
– With treatment, patients can survive into adulthood.
– Most common_____________genetic disorder in the
_______________________ among Caucasians.
mucus lungs
digestive
fatal
United States
![Page 53: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/53.jpg)
Cystic Fibrosis Gene
![Page 54: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/54.jpg)
Phenylketonuria or ________
⚫ Characterized by an inability to breakdown
the amino acid, _______________________
⚫ If untreated, results in severe mental
retardation
⚫ All babies born in US hospitals are tested for
PKU because it is easily treated with a diet
low in ___________________
PKU
Phenlyalanine
proteins
![Page 55: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/55.jpg)
![Page 56: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/56.jpg)
Tay-Sachs disease
⚫ Neurodegenerative disease of the _______ and
___________ in ______ involving the toxic
build-up of _______ due to a missing enzyme.
⚫ Symptoms appear at about 6 months
⚫ Ability to crawl and move is lost, and deafness,
blindness, and loss of ability to swallow
precedes ________ usually by 4 years of age
⚫ More common in certain ______ populations
and ________.
brainspinal cord
JewishCajuns
death
infants
lipids
![Page 57: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/57.jpg)
![Page 58: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/58.jpg)
Autosomal Co-Dominant Disorders
⚫ Sickle cell anemia is an autosomal
co-dominant disorder that affects
________________ production. Hemoglobin
is the protein that binds _________________
to red blood cells.
hemoglobinoxygen
![Page 59: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/59.jpg)
Sickle Cell Anemia
1. AA
⚫ Individuals with the normal genotype do not
have the sickle cell allele and produce only
normal hemoglobin.
![Page 60: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/60.jpg)
Sickle Cell Anemia
2. SS
⚫ Sickle Cell Anemia
⚫ Produce abnormal hemoglobin that causes the red blood cells to “sickle” when oxygen availability is decreased; for example, in high altitudes or during period of stress.
⚫ Sickled RBCs are more fragile, easily destroyed-results in lack of ___________due to decreased _______________ production in cells, blockage of blood vessels, and severe pain.
energyoxygen
![Page 61: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/61.jpg)
SS
⚫ Shortened life expectancy.
⚫ Most common inherited disease in
individuals of _______________ ancestry.African
![Page 62: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/62.jpg)
3. AS
⚫ Described as _____________________
⚫ Produce both normal and abnormal
hemoglobin
⚫ Do not typically show symptoms of the
disorder.
⚫ Heterozygote Advantage-Provides
resistance to __________________
heterozygous
malaria
![Page 63: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/63.jpg)
C. Autosomal Dominant Disorders
1. Huntington’s Disease
⚫ Fatal genetic disorder in which symptoms do not
show until _______________________
⚫ Characterized by deterioration of
middle age
Mental functions and
uncontrollable movements
![Page 64: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/64.jpg)
Achondroplasia
![Page 65: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/65.jpg)
Achondroplasia
⚫ ________________ (one form)
⚫ Individuals with the ___________________
genotype do not live to birth; or ____ shortly
after birth. ____________ genotype is the only
_______ genotype.
Dwarfism
Homozygous dominant
dieHeterozygous
viable
![Page 66: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/66.jpg)
![Page 67: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/67.jpg)
Marfan Syndrome [add to notes]
⚫ Marfan syndrome- Dominant disorder that
affects the connective tissue of the ________
system, eyes, and circulatory system.
⚫ Affected individuals have very __________,
vision problems, and are susceptible to aortic
rupture.
skeletal
long limbs
![Page 68: UNIT 8 Human Genetics · 2019. 1. 26. · V. GENETIC DISORDERS - SEX-LINKED DISORDERS A. Sex-Linked Inheritance (pp.350, 351) A gene is referred to as “sex-linked” if it is located](https://reader035.fdocuments.net/reader035/viewer/2022062612/61402140e59fcb3c636a4ca7/html5/thumbnails/68.jpg)
Marfan Syndrome