BIOLOGY 2C03 Lecture Notes - Lecture 5: Zygosity
27 Nov 2015
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1980: map the gene, clone the gene, identify the protein, biochemical basis of diseas : pedigrees: 47 affected families (106 patients, 94 parents, 44 unaffected siblings, linage paroxinase (pon gene) is linked to cf gene, 1986 linage analysis of hundreds of dna markers. Genetic analysis of linked markers used to identify carriers of cf (genetic carrier testing) Aso: oligonucleotide probe is constructed with sequence complementary to the exact dna sequence of the cf delta508 allele: allele change 508 has 3p delection (aga) in cf, with an aso test, the homozygous normal wont hybridizes to the delta508 aso probe (thus hybridizes => test positive) Hybridization of aso to the filter is indicated by the spot on the autoradiogram, which indicates the presence of delta508 allele. 5264 microsatellites mapped to 2335 chromosomal loci o o: avg density = 1 marker per 600,000 bp (6,6) homozygous str1; (10, 10) homozygous str2; (6, 10) heterozygotes.
