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17 Cards in this Set

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SRY gene
Testes specific transcription factor (role in sex.dev't for males)
If gene is missing or nonfunctional, female devt occurs.
transcriptional factor
protein that turns on other genes
sex linked traits
Found on sex chromosomes
Most are Xlinked
Males=XY (hemizygous)
X linked recessive
Always expressed in male
In female when homozygous
Mothers-sons and daughters
Fathers-daughters
X linked Dominant
Rare, more sever in males
Females only need 1 copy to express phyenotype
X-Inactivation
In females only
1 X chromosome condenses (called Barr body)and becomes inactive
Occurs early in development
XIST gene codes from RNA that binds to X chromosome and inactivates it
"Mosaics"
Females; some cells express genes on maternal X chromosome, some express genes on paternal X chromosome
Sex-limited Traits
Affects a structure or function of the body that is present in only males and females
(ex. ovary dev't vs. sperm dev't)
Sex-Influenced Traits
An allele is dominant in 1 sex and recessive in the other
Genomic Imprinting
Difference in expression of a gene depending upon whether it was inherited from mother or father.
types of traits
Mendelian= due to single gene (but can be multifactorial)
Multifactorial=influenced by enviornment
Polygenic= more than 1 gene (can be multifactorial)
Empiric Risk
predictions of recurrence based on trait's incidence in specific population
Based on observations/ epidemiological studies
Heritability
% of phenotypic variation due to genes
H=1..genes only
H=0..enviornment only
Proportion of ppl sharing a trait compared to proportion predicted to share trait
Adoption studies
share enviornment but not genes with adoptive family
share genes but not enviornment with biological parents
Twin Studies
Concordance= % of pairs in which both twins express the trait
Single Nucleotide Polymorphism
Nucleotide site w/ more than 1 allele is a polymorphism.
Site is polymorphic if allele is present in more then 1% of population
Association Studies
Compare group of interest to control group for presence of SNP.
If SNP is present more often in cases then in controls, it is associated w/ trait--> SNP may be near gene impacting trait