Human Genetic Disorders
I. Genes
a. Definition
• Segments of DNA molecules
• A nucleotide sequence
b. Functions
• Control of hereditary traits
• Sequence coding for a polypeptide which maybe an enzyme, or a part of an enzyme, which in turn is responsible for a certain phenotype or trait.
c. The Human Karyotype
• Ordered arrangement of chromosomes arranged in homologous pairs
• The chromosome complement of a cell or organism characterized by the number, size and morphological features of each chromosome
II. Types of Human Genetic disorders
a. Human Chromosomal Abnormalities
1. Nondisjunction
• Occurs when homologous chromosomes fail to segregate during meiosis
• Produces gametes with three chromosome pairs (trisomy) or only one chromosome of a normal pair (monosomy)
• Involves any chromosomes, including the sex chromosomes
• Causes serious genetic disorders
Ex: Down's syndrome- trisomy 21
Edward's syndrome- trisomy 18
Patau syndrome- trisomy 13
2. Klinefelter's......
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