BI226 Lecture Notes - Lecture 27: Gene Mapping, Haploinsufficiency, Zygosity

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30 Dec 2019
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Homozygosity for deletions is often lethal or harmful: depends on size of deletion and affected genes (where on chromosome, deletion heterozygotes, can have a mutant phenotype due to gene dosage effects (haploinsufficiency, may uncover existing recessive mutant alleles. Increases risk of phenotype due to mutation in the other copy of the gene. In deletion heterozygotes, pseudodominance can "uncover" a recessive mutation. Examine phenotype of a heterozygote for recessive allele and deletion: If the phenotype is mutant, the mutant gene must lie inside the deleted region. If the phenotype is wild-type, the mutant gene must lie outside the deleted region. Gene mapping using deletions to uncover recessive mutations. Wild progeny deletion doesn"t line up with mutant allele. Mutation progeny deletion matches up to where mutant allele is. Deletion loops form in the chromosomes of deletion heterozygotes. Recombination between homologs can occur only at regions of similarity. No recombination can occur within a deletion loop.

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