Lecture 13 Flashcards by darin daw

Q

3 group of genetic disease

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terminology

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locus

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single gene disease

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the monogenic disease

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Q

online Mendelian inheritance in man

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Q

disorders with multifactorial inheritance polygenic

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monogenic mendelian disorders

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numerical abnormalities

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numerical chromosome abnromalities

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Q

three different patterns of chromosomes can cause Down syndrome

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Q

two important conditions caused by anomalies of sex chromosome unumber

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Q

two other important autosomal trisomyies

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Q

Autosomal dominant disorders

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Q

Autosomal dominat vs autosomal recessive

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X linked disease

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Q

chromosomal aberrations cytogenetic disorders

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structural abnormalities

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Q

methods to stuy chromomosomes

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Q

localization

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Q

localization side by side

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genomic variation and itis effect

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direct to consumer marketong

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GAO

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PERSONAL GENOMICS

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STIUDIES ON HUMAN HEIGHT

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GENOME WIDE ASSOCIATION STUDIES

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TECHONOLGY MAKE IT FEASIBLE

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WHAT HAVE GWAS studies found?

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traditional issues persist

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non snp variants importants

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lessons from GWAS for understanding common traits or disease

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GWAS limitation

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linkage vs association

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good gene bad gene

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example of good gene

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human genetic variation

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how much genetic variation does an individula possess?

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penetrance of genetic variants

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the search for diseae causing variants

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identifying the genetic casese of highly penetrants disorders

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de novo mutations

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look at teh epidemiolog of the disease for clues

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identifying a casusative de novo mutation

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mendelian disease

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mendelian diseae

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single nucleotide polymorphisims

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measures of association the odds ration

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odds ratio example

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Q

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