01:119:115 Lecture Notes - Lecture 18: Xyy Syndrome, Fundamental Theorem Of Arithmetic, Hemoglobin
21 Apr 2016
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Human genetics - the study of inherited variances in humans: difficulties in research. A. 3. few offspring long generations can"t experiment on humans (ethical reason: how to study human genetics. B. 4. study populations of large extended families analyze matings that have already occurred med attention to human genetic diseases can use dna sequencing. Look at 2nd gen and extended families understand genetic bases of similarities and differences. Natural experiments - how garrod found that mendel"s rule. Pedigree analysis applied to humans: pedigree - family tree that shows inheritance patterns over several generations, can predict inheritance of phenotypes controlled by genotype at single locus. Defective allele defective protein or no protein at all no function. In most cases, parents of the infected are hetero (carriers) Most human genetic diseases inherited as single-locus autosomal recessive traits. Caused by single aa substitution in the hemoglobin channel. Sickle cell heterozygous - produces normal and abnormal hemoglobin. No phenotypic difference b/w heterozygous and homozygous dominant individuals.
