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Unit 12

Human Genetics

Tay Sachs Disease Lethal dominant gene won't break down gangliosides in nerve cells, therefore the build up and burst through the neuron Genetic
Cystic Fibrosis Lethal most common in the US Produce too much mucus in the body recessive gene homozygous recessive Genetic
Huntington's Disease Lethal Genetic Dominant gene motor neurons are being destroyed, usually notice by age 35 which the genes have already been passed down by then.
Fragile X Causes the chromosome to bend, found at the end of a x chromosome, leading genetic cause for mental retardation, causes excess of cartilage in there face Sex-linked inheritance
Colorblindness Sex-lined inheritance Recessive allele, cannot differentiate between green&blue, red&yellow
Polygenic Dependent upon alleles in two or more gene pairs
Multiple Allelic Referring to a single gene pair in which there are more than two possible alleles
Albinism A group of inherited disorders characterized by little or no melanin production. Pleiotropic and Epistatic Autosomal Recessive
Epistatic an allele in one gene pair alters the expression of one or more alleles in other gene pairs.
Pleiotropic one allele produces multiple phenotypes
Chromosomal Disjunction a chromosome separates from its homologous during meiosis
Chromosomal Nondisjunction a chromosome fails to separate from its homologous during meiosis (3 instead of 2 chromosome)
Monosomy the condition of having a diploid chromosome complement in which one (usually the X) chromosome lacks its homologous partner.
Trisomy a condition in which an extra copy of a chromosome is present in the cell nuclei, causing developmental abnormalities.
Turner's Syndrome A chromosomal disorder in which a female is born with only one X chromosome
Klinefelters Syndrome A genetic condition in which a male is born with an extra copy of the X chromosome
Down Syndrome A genetic chromosome 21 disorder causing developmental and intellectual delays.



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