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Ben Leon
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Decks in this class (18)
Pedigree
Quality of phenotype location gen...,
Mendels laws 1 segregation 2 inde...,
Mitochondrial inheritance hemizyg...
5
cards
Genome Organization
Histones that are combined with d...,
What is sattelite dna mini satell...,
Viable spot for a trisomy example...
4
cards
Chromosomal Abnormalities
Key differences between meiosis a...,
Trisomy examples 3,
Pseudoautosomal regions m1 splitt...
7
cards
Epigenetics/Imprinting
Epigenetics def ex imprinting mol...,
3 rules of imprinting how do soma...,
Idic symptoms interstitial 15q du...
3
cards
Turners/Gauchers
Turners clinical presentation 5 c...,
Gauchers thrombocytopenia etiolog...,
Gauchers 3 types symptoms 4 thera...
4
cards
Population genetics/ Counseling
Population genetics definition eq...,
Goals of counseling 4 basic tenet...
2
cards
Multifactorial Inheritance/ Epigenetics
Mf inheritance def what plays a r...,
Characteristics of complex trait ...,
Charatacteristics of epigenetics ...
4
cards
AR Diseases
Majority of mutant alleles where ...,
Pku def high where low where phen...,
Alpha 1 antitrypsin atd deficienc...
4
cards
Determination of Sex
Advantages of sexual reproduction...,
Sex differentiation leads to test...
2
cards
Autosomal Dominant
Characteristics 4 lethality clini...,
1 achondroplasia mutated protein ...,
4 huntington s disease neuronal a...
3
cards
X-Linked Disorders
Characteristics 2 recessive chara...,
Recessive examples 1 duschenne mu...,
4 hemophilia a what causes it phe...
4
cards
Hemoglobinopathies
Alpha like gene composition beta ...,
Structural qualitative mutations ...,
Thalessemia rbc s appearance 3 a ...
5
cards
Genetic Testing
1 chromosomal analysis used to pr...,
3 cma looks for pros cons 4 dna s...,
Genetic testing doesn t need info...
4
cards
Treatment/ Case Studies
Genetic cures are rarebut treatme...,
Pompe example of progeria example...,
Achondroplasia clinical concern t...
3
cards
Mutational Mechanisms and Disease
Loss of function mutation def ex ...,
Novel property mutation ex 2 alte...,
Mutations that interrupt protein ...
3
cards
Finding Diseases
Or calculation par calculation or...,
Hypothesis driven approaches 1 ma...,
Hypothesis free approaches 3 wher...
3
cards
Pharmacogenetics
Pharmacogenetics pharmacogenomics...,
Common genes drugs 1 mutations dr...,
Common genes drugs part 2 4 relat...
3
cards
Diseases by Inheritance Pattern
Autosomal recessive 9,
Autosomal dominant 11,
X linked recessive 5 x linked dom...
3
cards
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M2M - Genetics
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