HMB265H1 Chapter : 2.3 Mendelian Inheritance Patterns
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HMB265H1 Full Course Notes
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2. 3 the molecular basis of mendelian inheritance patterns restriction fragment length polymorphism (rflp): a difference in dna sequence between individuals or haplotypes that is recognized as different restriction fragment lengths. For example, a nucleotide-pair substitution can cause a restriction enzyme recognition site to be present in one allele of a gene and absent in another. Consequently, a probe for this dna region will hybridize to different-sized fragments within restriction digests of dnas from these two alleles. A recessive mutation produces an allele by chance and introduces a new cutting site for a restriction enzyme. Cutting site allows inheritance of mutation to be tracked by using. Southern blot detects one dna fragment for homozygous normal and two fragments for homozygous abnormal, but three for heterozygous individuals, owing to the presence of normal and mutant alleles. Molecular markers: a site of dna heterozygosity, not necessarily associated with phenotypic variation, used as a tag for a particular chromosomal locus.
