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Genes and Genetic Diseases
chapter 2 pathophysiology LCC
16
Biology
Undergraduate 1
01/30/2016

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Term
Organism
Definition
*Made of trillion of cells
*Each cell has a nucleus
*Each nucleus has one specific chromosome pair
*Each chromosome has DNA
*DNA is a double helix
Term
karyotype
Definition
an ordered display of chromosomes
Term
Euploid
Definition
cells with multiple of the normal number of chromosomes.
Term
Polyploidy
Definition
when a euploid cell has more than a the diploid number of chromosomes.
*some liver, bronchial, and epithelial tissues normally.
Term
Aneuploidy
Definition
a cell that does not contain a multiple of 23 chromosomes
1 in 500 live male births
*3 copies of one chromosome- trisomy
1 in 900 live female births
Term
Phenotype
Definition
The outward appearance of an individual, which is the result of both genotype and environment.
Term
Genotype
Definition
The composition of genes at a given locus
Term
Homozygous
Definition
when two alleles are identical
Term
Heterozygous
Definition
when alleles are not identical
Term
Dominant
Definition
the allele whose effects are observable
Term
Recessive
Definition
the allele whose effects are hidden
Term
Punnett square
Definition
illustrated the distribution of traits based on homozygous or heterozygous alleles.
Term
Downs syndrome
Definition
Trisomy of chromosome 21
IQ- 20-70 (metal retardation)
Virtually all males are sterile, some females can reproduce
*low nasal bridge, epicanthal folds, protruding tongue, low-set ears
*poor muscle tone(hypotonia), short
*Congenital heart disease, reduced ability to fight resp infect, increase chance of leukemia, reduced survival rate. by 40 usually develop alzheimers sypm.
*76% of fetus' abort spontaneously or are stillborn, 20%infants die before 10; life expectancy of about 60
*97% caused by nondisjunction
Term
Turner's syndrome
Definition
(45,X) Monosomy of X chromosome
*Found only in females
short stature, webbing of neck, widely spaced nipples, reduced carrying angle at elbow
*Coarctation (narrowing) of aorta, edema of feet in newborns, usually sterile, lack of ovaries
*Most common single-chromosome aberration
*only .5% survive from conception
*caused by meiotic error in father
Term
Klinefelters syndrome
Definition
(47,XXY) XXY Condition
*Moderate degree of mental impairment
*Have male appearance but usually sterile; 50% develop gynecomastia
*occurs in 1:1000 male births
*Voice somewhat high pitched
*Sparse body hair, small testicles
*50% of cases result of nondisjunction of X chromosomes in mother, frequency rises with increasing maternal age
Term
allele
Definition
at a given locus, an individual has one whose origin is paternal and one whose origin is maternal.
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