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Anatomy Chapter 25

Genetics and Genetic Diseases

genetic code is transmitted to offspring in discrete, independent units genes
entire collection of genetic material in each typical cell of the human body genome
the human genome contains how many genes 20,000-25,000
what percent of the DNA carries genes that code for proteins 2%
remnant of our evolutionary past pseudogenes
analysis of the genomes genomics
the analysis of proteins proteomics
entire group of proteins encoded by the human genome proteome
cartoon of chromosome ideogram
shorter segment of the chromosome p-arm
longer segment of the chromosome q-arm
sex chromosomes 23
autosomes 46
genetic variation gametes with different sets of 23 chromosomes, independent assortment, and crossing-over
example of recessive trait albinism
person can transmit the recessive gene to offspring genetic carrier
two different dominant genes together Codominance
determined by the genes in the large X chromosome, X-linked sex-linked traits
examples of sex-linked traits color blindness and hemophilia
change in genetic code mutation
mutation are caused by mutagens (chemicals, radiation, viruses)
individual mutant genes single-gene disease
science that describes how environmental and behavioral factors may result in offspring with genetic traits that can't be explained by genes alone epigenetics (imprinting)
triplet of autosomes, chromosomes fail to separate, nondisjunction (47) trisomy
presence of only one autosome, (45) monosomy
recessive gene in chromosome 7 that codes for CFTR. Sodium and Chloride. Exocrine cells secrete thick mucus and sweat Cystic Fibrosis
caused by a recessive gene that fails to produce the enzyme phenylalanine hydroxylase Phenylketonuria (PKU)
recessive condition involving failure to make a subunit of essential lipid-processing enzyme. Tay-Sachs disease (TSD)
gene gets too long fragile X syndrome (FXS)
chromosomal disorder that is a trisomy on chromosome 21 Down Syndrome
genetic disorder with an XXY pattern Klinefelter syndrome
occurs in females with a single sex chromosome, XO Turner syndrome
chart that illustrates genetic relationships in a family over several generations pedigree
grid used to determine probability of inheriting genetic traits Punnett square
procedure in which fetal cells floating in the amniotic fluid are collected with a syringe amniocentesis
use of viruses or bacteria to try to alter the DNA gene augmentation
Created by: Blogan



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