Human Genetics Problem Set

Problem 15 Tutorial: Markers for mapping chromosomes

Which of the following is a useful marker for genetic or physical mapping of human chromosomes?

Markers Useful for Genetic and Physical Mapping of Human Chromosomes

RFLPs, "restriction fragment length polymorphisms"

RFLPs, or "restriction fragment length polymorphisms," is a term to describe different alleles of a genetic locus that can be distinguished by Southern hybridization. See question 2 for more details.

ESTs, "expressed sequence tags"

The term "EST" is now used to describe the DNA sequence of a short fragment of a cDNA copy of mRNA. mRNAs are expressed sequences. See question 18 for more details.

STRPs, "short tandem repeat polymorphisms"

A STRP is a short sequence is repeated many times in tandem. The region is "polymorphic" (many forms), because there are many different alleles differing in the number of CAG repeats. Primers have been defined for amplification of the locus by the polymerase chain reaction. See question 16 for more details.

STSs, "sequence tagged sites"

STS is a generic term for any unique chromosomal location that can be used for genetic or mapping studies. STSs are most commonly detected by PCR.

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