How is sickle cell anemia being passed from parents to offspring?

You guessed it. Sickle cell anemia is a recessive trait.

But what about dominant traits? Can they be passed along too?

Human genetic disorders

Autosomal recessive 2) Autosomal dominant 3) sex-linked

(infantile tay sach’s) Tay Sach’s Disease (infantile tay sach’s) caused by a defective gene on chromosome 15 rare disease that commonly affects the Eastern Jewish population body lacks a protein that breaks down gangliosides gangliosides build up in nerve cells found in the brain and cause damage --> parts of the cellular membrane

(infantile tay sach’s) Tay Sach’s Disease (infantile tay sach’s) characterized by a red spot on a person’s retina symptoms include: -loss of motor skills -deafness -decreased eye contact -seizures -paralysis child usually dies by age 4 or 5 no cure

Cystic fibrosis caused by a defective gene on chromosome 7 30,000 children & adults in the U.S 70,000 worldwide characterized by an unusual sticky mucus affects the lungs and digestive system median age of people with CF is mid-40s no cure

albinism caused by one of four defective genes: - TYR - OCA2 - TYRP1 - SLC45A2 characterized by a partial or complete loss of melanin --> pigment that causes color in hair, skin, and eyes

pedigree

pedigree

Autosomal recessive 2) Autosomal dominant 3) sex-linked

Huntington’s disease caused by a defective gene on chromosome 4 1 out of 10,000 in the U.S neurodegenerative disorder CAG triplet repeat causes a build up of the huntingtin protein in the brain chromosome 4

Huntingdon’s disease symptoms usually appear in mid-30s - mood swings, no cure - mood swings, - personality change, - slurred speech, - impaired judgement, - involuntary movements

achondroplasia caused by a defective gene on chromosome 4 (dwarfism) caused by a defective gene on chromosome 4 results in severely shortened limb bones homozygous dominant individuals are usually stillborn or die very early heterozygous individuals live a normal life

Autosomal recessive 2) Autosomal dominant 3) sex-linked

sex-linked ** remember females have XX and males have XY ** recessive disorders typically affect males more often than females because females usually have dominant allele that will mask

hemophilia affected individuals have little to no clotting factor

royal family pedigree

color blindness caused by defective genes on the X chromosome that produce photpigments totally or partial color blindness - blue yellow - red green

Disorders caused by Changes in the chromosome

Fragile x dominant caused by a duplication mutation on the X chromosome causes mild to severe intellectual disabilities causes physical changes - similar to autism - long narrow face flat feet - large ears prominent jaw and forehead

cri-du-chat caused by a deletion mutation on chromosome 5 causes severe intellectual disabilities causes physical changes - low birth weight - low muscle tone rounded face widely set eyes

nondisjunction failure of homologous chromosomes to separate during meosis

turner’s syndrome affected girls are missing an entire sex chromosome non-functioning ovaries no menstrual cycle sterile XO sex chromosome

down’s syndrome caused by a trisomy on chromsome 21 intellectual disabilities physical characteristics - low IQ - impaired senses - small chin - wide flat face - slanted eyes - short neck

down’s syndrome