Genetic Disorders PDF

Genetic Disorders health issues caused by DNA abnormalities ranging from birth defects to chronic disease. Three main causes: -mutation in a single gene -chromosomal abnormalities -complex conditions  Single gene disorders Autosomal Dominant Expr...

Genetic Disorders health issues caused by DNA abnormalities ranging from birth defects to chronic disease. Three main causes: -mutation in a single gene -chromosomal abnormalities -complex conditions  Single gene disorders Autosomal Dominant Expressed by Homozygotes & Heterozygotes (1 copy) - Hereditary breast and ovarian cancer - Achondroplasia Autosomal Recessive Expressed by Homozygotes (2 copies) Heterozygotes are carriers - Sickle cell - Cystic fibrosis - Albanism X-linked and Y-linked Males can only transmit X-linked alleles to female offspring and Y-linked alleles to male offspring Females can pass X-linked alleles to both male and female offspring - Red-green color blindness (X-linked) - Hereditary hemophelia (X-linked) - Duchenne muscular dystrophy (X-linked) - Hypertrichosis of the ears (Y-linked) Chromosomal abnormalities Different number of chromosomes Monosomy – missing a chromosome - Turner syndrome (XO) Trisomy – having an extra chromosome - Down syndrome (trisomy 21) - Klinefelter syndrome (XXY) - XXX and XYY syndromes Polyploid – having 3 or more of each type of chromosome characteristic of the species (common in flowering plants, some insects, fishes, and other animals) Changes in chromosomes (incomplete or shaped differently than usual) Nondisjunction – failure of chromosomes to separate normally during meiosis or mitosis Deletion – missing a small part of a chromosome Translocation – part of one chromosome has moved to another chromosome Inversion – part of a chromosome has flipped over Complex conditions Genetic changes in 2+ genes in conjunction with environmental factors Environmental exposures & behaviors such as air pollution, diet, exercise, smoking/vaping, alcohol consumption, UV/radiation, chemical toxins, etc. Can run in families, but no clear pattern of inheritance Chronic diseases: - Heart disease - Many cancers - Diabetes type 2 - Osteoporosis - Asthma Developmental disabilities: - Autism spectrum disorder - AD/HD - Depression - Schizophrenia