Mapping Genetic Diseases

Genome scans for disease gene mapping are routinely performed with around 400 STRs covering the human genome at 5-10 centiMorgan (cM) distances (Ghebranious et al. 2003). Marshfield Genetics (http://research.marshfieldclinic. org/genetics/) and the Center for Inherited Disease Research (CIDR; http:// www.cidr.jhmi.edu/) perform high volume genetic testing using hundreds of STRs per DNA sample. Studies of STR allele frequencies between normal and disease patient populations are used to help make associations with the genetic disease. When correlations are made between a STR locus and a disease gene through linkage analysis, then the known location of the STR marker can help pinpoint the previously unknown location of the disease gene of interest.

STR loci that are examined in these types of genetic mapping studies may be associated with disease gene locations. Thus, it is helpful to know which loci used in human identity testing are also widely used in genetic mapping studies. For example, the 408 loci included in Marshfield Set 12 incorporate five of the 13 CODIS core STR loci - namely TPOX, D7S820, D8S1179, D13S317, and D16S539. The locus D19S433 that is part of the SGM Plus and Identifiler kits (see Chapter 5) is also included in the commonly used genome scan studies for genetic disease associations. Likewise, the 405 markers used by CIDR as ofJune 2004 include D8S1179, D13S317, and D16S539 along with F13A1 and D19S433 that are present in various commercial STR kits used for human identity testing. A genetic disease called Meckel-Gruber syndrome has been reported to be located near D8S1179 (Morgan et al. 2002). While the determination of linkage to some genetic disease with a STR marker may cause concern for some users of these loci, it is important to keep in mind that it is likely that many or possibly most STRs will eventually be shown to be useful in following a genetic disease or other genetic trait within a family and therefore this possibility must be recognized at the outset of the use of such systems (Kimpton et al. 1995).

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Stammering Its Cause and Its Cure

Stammering Its Cause and Its Cure

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