Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human...
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Transcript of Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human...
![Page 1: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/1.jpg)
Genetics Pedigrees and Karyotypes
![Page 2: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/2.jpg)
Karyotype
![Page 3: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/3.jpg)
Karyotype
• What to look for in a karyotype?• When analyzing a human karyotype, scientists
first look for these main features:• Are there 46 chromosomes? • Are there 2 identical pairs of each autosome and
2 sex chromosomes? • Are there any rearrangements between
chromosomes or large deletions?
![Page 4: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/4.jpg)
Chromosomes
• Humans have 46 chromosomes
• 44 chromosomes are autosomes
• 2 are sex chromosome• Females have two X
chromosomes• Males have one X and
one small Y chromosome
![Page 5: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/5.jpg)
PedigreesMALEMALE FEMALEFEMALE
Shaded means the person is
“affect” by a disorder
Shaded means the person is
“affect” by a disorder
Unshaded means the person is
not “affect”
Unshaded means the person is
not “affect”
Half shaded means the
person is not “affect”, but is a carrier of the disorder
Half shaded means the
person is not “affect”, but is a carrier of the disorder
![Page 6: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/6.jpg)
Pedigrees MARRIEDMARRIED
THEIR KIDSTHEIR KIDSTHE SON & HIS WIFE
THE SON & HIS WIFE
THEIR KIDSTHEIR KIDS
![Page 7: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/7.jpg)
Inheritance of sex chromosomes
• Egg cells contain one X chromosome
• Sperm cells contain either one X chromosome or one Y chromosome
• So in a human population, half are male and half are female
![Page 8: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/8.jpg)
Sex linked Genes• Genes located on the
sex chromosomes are called sex-linked genes.
• Males have just one X chromosome, so all X-linked alleles are expressed in Males
![Page 9: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/9.jpg)
• What percent of offspring will be girls?
• What percent of offspring will be boys?
• What percent of offspring will have normal vision?
• What percent of offspring will be colorblind?
• What percent of offspring will be carriers?
Sex-Linked Genes
![Page 10: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/10.jpg)
Hemophilia Pedigree
![Page 11: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/11.jpg)
Chromosomal Disorders
• Nondisjunction
![Page 12: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/12.jpg)
Chromosomal Disorders
• Down syndrome– Trisomy 21– Due to non-disjunction
in second stage of meiosis
![Page 13: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/13.jpg)
Chromosomal Disorders
• Turner’s Syndrome
• What is missing?
• Karyotype is (45,X)
• Only one X chromosome
![Page 14: Genetics Pedigrees and Karyotypes. Karyotype What to look for in a karyotype? When analyzing a human karyotype, scientists first look for these main.](https://reader036.fdocuments.net/reader036/viewer/2022062321/56649ef25503460f94c046d1/html5/thumbnails/14.jpg)
Chromosomal Disorders
• Klinefelter’s Syndrome
• What is extra?
• Karyotype 47 XXY
• Extra X chromosome