Class Information Flashcards
Uneven inheritance of mitochondrial genes
Heteroplasmy
Familial dominant hyperlipidemia
Usually caused by mutations in PCSK9 or LDLR. PCSK9 is a negative regulator of LDLR, and LDLR is the major regulator of blood cholesterol levels.
Predisposes to early myocardial infarction.
Non allelic homologous recombination
Remember the name
It comes up a lot.
Gonadal mosaicism
Different populations of gonadal genomes due to a somatic mutation within gonadal tissue
DiGeorge Syndrome
Deletions spanning approximately 3 million base pair region on 22q11; more than two dozen genes have been identified within the deleted region. Recently, one gene, a putative transcription factor TBX1, has been implicated in the pathogenesis of many or most of the features of DiGeorge/VCFS syndrome.
Disorder of development of the pharyngeal endoderm
congenital cardiovascular defects, hypocalcemia, craniofacial abnormalities, behavioral defects, schizophrenia
Turner Syndrome
Monosomy X (45, XO)
Short stature, gonadal failure, subtle dysmorphic features, subtle learning issues
Klinefelter Syndrome
47, XXY
Tall stature, gonadal failure, subtle variable learning difficulties
Ascertainment Bias
The belief that, in the case of an inherited genetic syndrome, the future presentation of the child will mimic the current or past presentation of the parent.
Often false due to differential genetic backgrounds
FISH is primarily used for. . .
Leukemias/Lymphomas with specific, known chromosomal translocations
Such as Burkitt’s Lymphoma and Philidelphia Chromosome (Chronic myelogenous leukemia)
Long haplotypes assosciated with positively selected genes are likely to be ____ in age.
Long haplotypes assosciated with positively selected genes are likely to be younger in age.
“Selective Sweep”
A young genotype arises that is SOOOO positively selected for that its haplotype outcompetes all of the other haplotypes it competed with before it had a chance to be dispersed due to recombination.
