Biochemistry 4463G Chapter Notes - Chapter 7: Dominance (Genetics), Y Chromosome, Proband

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For autosomal loci and x-li(cid:374)ked lo(cid:272)i i(cid:374) fe(cid:373)ales, a perso(cid:374)(cid:859)s genotype at a locus consists of both of the alleles occupying that locus on the two homologous chromosomes. Haplotype refers to the set of alleles at two or more neighbouring loci on one of the two homologous chromosomes. Phenotype is the expression of genotype as a morphological, clinical, cellular, or biochemical trait. These can be clinically observable or may only be detected by blood/tissue testing. A person with a pair of identical alleles at a locus, is homozygous. When the allele pairs are different, the person is heterozygous (if both the alleles are mutant alleles with no wild-type, it is referred to as being compound heterozygous). These terms can only be applied for the nuclear genome. Mitochondrial genome is circular, and some genes are located in plasmids thus, heterozygous and homozygous gene classification cannot be applied to the mitochondrial genome.

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