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Genetic Disorders

by: Megan Foy

Genetic Disorders BIO 102

Megan Foy
GPA 3.57
General Biology
Dr. Storfer

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General Biology
Dr. Storfer
Class Notes
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This 3 page Class Notes was uploaded by Megan Foy on Thursday March 5, 2015. The Class Notes belongs to BIO 102 at Washington State University taught by Dr. Storfer in Spring2015. Since its upload, it has received 10 views.


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Date Created: 03/05/15
Genetic Disorders Wednesday March 4 2015 1209 PM 0 Types ofdominance 0 Complete 0 Incomplete I Mendel39s 3rd experiment with snapdragons I When mixed red and white F1 generation was pink intermediate I F3generation had a 1221 ratio of III Homo red III Hetero pink III Homo white 0 Codominance ABO blood types I Gene that controls ABO type codes for enzyme that dictates structure f a glycolipid on the blood cells I 2 alleles IA and IB are codominantwhen paired I Third allele i is recessive to others 0 Most traits are not coded by single genes 0 Polygenic traits influences by multiple genes I Skin color eye color I Greater number of genes and environmental factors that affect the trait the more variations oftrait Types of genetic disorders 0 Single gene mutations I More than 6000 known disorders I 1 in 200 births inherited predictability I Cystic fibrosis sickle cell anemia Huntington39s disease 0 Multifactorial or 39polygenic39 I Combinations of environmental factors and mutations in multiple genes I Breast cancer associated genes found on chrom 6 11 13 14 15 17 and 22 0 Chromosomal I Duplicationpart of ch rom is repeated and passed on to the offspring Inversiona linear stretch ofthe DNA is inverted in the chrom Translocation Deletionloss of a segment of a ch rom most are lethal Nondisjunction III Problem during meiosis when homologous chroms do not separate properly during anaphase III Causes some gametes to have n1 chroms in humans 24 or n1 chroms22 causes aneuploidy in offspring2naor2n1 Majorcause of human reproductive failure Most human miscarriages are aneuploidy Types on aneuploidy 0 Down syndrome b b b b Trisomy of ch rom 21 Mental impairment and a variety of additional defects Can be detected before birth Risk increases when mother is over 35 O Turner syndrome b b b Inheritance of only on X X0 98 spontaneously aborted Survivors are short infertile females No functionalovaries Secondary sexual traits reduced May be treated with hormones surgery 0 Klinefelter syndrome b b XXY condition Results mainly from nondisjunction in other 67 Phenotypeis tall males Sterile or nearly so Feminized traits sparsefacial hair somewhat enlarged breasts Treated with testosteroneinjections 0 Jacob syndromeXYY b b b Taller than average males Most otherwise phenotypically normal Some mentally impaired r Once thought to be predisposed to criminal behavior but studies now discredit o Mitochondrial 39 Relatively rare Inheritance patterns 0 Autosomal non sex ch rom recessive if parents are both hetero child will have 25 change of being affected I CF 0 Autosomal dominant trait often appears in every generation 39 Achondroplasia III Homozygotesusuallystillborn III Heterozygotes display type of dwarfism o XIinked recessive carried on X ch rom only 39 Male show disorder more than females 39 Son cannot inherit disorder fromfather 39 Examples ofXIinked traits III Color blindness III Hemophilia 17000 males has aee for hemophilia A Common in European royal families


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