Introduction to human genetic 2016
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Transcript of Introduction to human genetic 2016
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Mohamed Abu-Bakr MohamedM.B.B.CH
M.SC.DEGREE IN PAEDIATRICSAssistant lecturer of pediatric , AUCH
Clinical geneticist & metabolic diseases specialist
2016
Introduction to human genetic
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Human body
Different systems
Different organs
Millions of cells
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Definitions
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Genome:-the total number of genes contained in one cell.
Genotype:-complete genetic structure of an individual.
Phenotype:-the physical appearance of an individual that is produced by the interaction of his genes & environment.Allele:-alternative forms of a gene that occupy a specific locus on a specific gene
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• Karyotype:-systematic arrangement of chromosomes into homologous pairs
• Autosomal chromosome in humans, the 22 pairs of chromosomes that are not the sex chromosomes (XX or XY)
• Sex chromosomes :-pair of chromosomes involved in sex determination; in males, the XY chromosomes; in females, the XX chromosomes
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Cell cycle & Cell divison
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Diploid (2N) – cell that contains both chromosomes of a homologous pair
human bodycells 46
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Homologous Chromosomes pair of chromosomes that have same size and shape
• human body cells have
23 homologous pairs
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Haploid (N) – cell that has only one chromosome of each homologous pair
ovum & sperm human sex
cells23
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Cell cycle
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Cell Cycle
• The cell cycle is a sequence of cell growth and division.
• The cell cycle is the period from the beginning of one division to the beginning of the next.
• The time it takes to complete one cell cycle is the generation time.
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Cells divide when they reach a certain size. NO (nerve and red blood cells)
Stages in eukaryotic cell cycleInterphase1-First gap phase2-Synthesis phase3-Second gap phase
M phase1-cell divison2-Cytokinesis
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Cell Cycle
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Interphase
G1 phasecell grows to mature size
S phaseCell’s DNA copies
G2 phaseCell prepares for cell division
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Interphase
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Why cells divide?
Replace old, damaged or dead cellsGrowth of organism (multicellular)
Or organs
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Eukaryotic Cell Division
2 kinds of cell divisionMitosis- Process in which 2 new cells with
identical genetic material are made from the parent cell (1 diploid cell divides to produce 2 new diploid cells)Meiosis- Process in which gametes (sex cells) are
made in which they recieve half of the genetic information
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Mitosis divison
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Mitosis division of chromosomes
4 EventsProphaseMetaphase AnaphaseTelophase
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1st step in Mitosis: Prophase (preparation phase)
The DNA recoils, the chromosomes condense the nuclear membrane disappears
Two pairs of centrioles migrate to each pole of the cell and release spindle fibers that radiate throughout the cell and attach to the centromere of each chromosome
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2nd step in Mitosis:metaphase (organizational phase)
The chromosomes line up the middle of the cell with the help of spindle fibers attached to the centromere of each replicated chromosome.
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3rd step in Mitosis: Anaphase (separation phase)
• Chromatids of each chromosome split and are pulled apart to opposite poles of the cell
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4th step in Mitosis: Telophase
The chromosomes, along with the cytoplasm and its organelles and membranes are divided into 2 portions. This diagram shows the end of telophase.
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After Mitosis: Cytokinesis
The actual splitting of the daughter cells into two separate cells is called cytokinesis and occurs differently in both plant and animal Cells.
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Cell Cycle
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Meiosis divison
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Meiosis Interphase
Meiosis is preceded by interphase. The chromosomes have not yet condensed.
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Meiosis Prophase I
The chromosomes are completely condensed.
In meiosis (unlike mitosis), the homologous chromosomes pair with one another
crossing over may occur
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Crossing Over Between Homologous Chromosomes
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Meiosis Metaphase I
The nuclear membrane dissolves
the homologous chromosomes attach to the spindle fibers.
They are preparing to go to opposite poles.
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Meiosis Anaphase I
The chromosomes move to opposite ends of the cell.
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Meiosis Telophase I & CytokinesisThe cell begins to divide into two daughter cells.
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Meiosis Prophase II
The cell has divided into two daughter cells.
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Meiosis Metaphase IIAs in Meiosis I, the chromosomes line up on the spindle fibers.
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Meiosis Anaphase II
The two cells each begin to divide. As in Meiosis I, the chromosomes move to opposite ends of each cell.
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Telophase II & Cytokinesis
With the formation of four cells, meiosis is over.
Each of these germ cells carries half the number of chromosomes of somatic cells.
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Why we study cell division?!!!
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Gametogensis
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Male Spermatogenesis1- spermatogenesis occur in seminiferous tubules.2- process started at puberty.3-continuos process without any pauses till end of life.4- mitosis primary spermatocyte.5-1st meiotic secondary spermocyte.6-2nd meiotic spermatid.7- duration of process69-75 days.
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Female oogenesis
1- process occur in ovary.
2-mitosis start during intra-uterine life primary oocyte
3-then 1st meiotic start after birth and arrested at prophase I then resumed at puberty when ovulation occurred
4- 2nd meiotic occur after ovulation and arrested at metaphase II until fertilization occur with formation of mature ovum
5- duration of process12-45 years
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Gametes sex cells (sperm and egg)
human sperm cells
human egg cell
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cell that results fromthe fusion of gametes
• forms when sperm fertilizes
the egg
Zygote