Pigmentation Genetics & Aneuploidy

FINAL

inheritance of any phenotype resulting in bell-shaped curves

multifactorial

primary purpose of pigmentation in humans

UV light absorption

extra (more than one) X chromosome in normal biological females and Klinefelter syndrome individuals are condensed and inactivated which can be visualized as a _____ in the nucleus of their cells

Barr body

vitamin D is required for absorption of dietary _____

Calcium 

precursor on which uv light acts to produce vitamin D

7-dehydrocholesterol

the multiple phenotypes of Down's syndrome individuals are related to overexpression of a subset of genes caused by a condition described as ______.

Trisomy 21

Turner's syndrome results from having the genotype of ____.

XO

aneuploidy typically occurs due to ______ during meiosis I in aging female ovaries

nondisjunction

pumps tyrosine into melanosomes

OCA2

transports H+ out of the melanosome to create the optimal pH of 7 for tyrosinase function

MATP

hypopigmentation in a pregnant human female at the equator carries the risk of ____ in the developing fetus

neural tube defects

rapidly destroyed by uv light in blood vessels of hypopigmented individuals

folate

methyl-tetrahydrofolate is required to produce _____

Thymine

Klinefelter's syndrome results from having the genotype _____.

XXY

hyperpigmentation in extreme northern or southern latitudes carries the risk of _____.

Rickets