Format

Send to

Choose Destination
See comment in PubMed Commons below
Indian J Hum Genet. 2011 May;17(2):65-9. doi: 10.4103/0971-6866.86178.

Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis.

Author information

1
Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, Pakistan.

Abstract

The present study was carried out to determine the prevalence of families having mental retardation in Pakistani population. We enrolled seven mentally retarded (MR) families with two or more affected individuals. Family history was taken to minimize the chances of other abnormalities. Pedigrees were drawn using the Cyrillic software (version 2.1). The structure of pedigrees shows that all the marriages are consanguineous and the families have recessive mode of inheritance. All the families were studied by linkage analysis to mental retardation locus (MRT1)/gene PRSS12. Three STR markers (D4S191, D4S2392, and D4S3024) in vicinity of mental retardation (MR) locus (MRT1)/gene PRSS12 were amplified on all the sample of each family by PCR. The PCR products were then genotyped on non denaturing polyacrylamide gel electrophoresis (PAGE). The Haplotype were constructed to determine the pattern of inheritance and also to determine that a family was linked or unlinked to gene PRSS12. One out of the seven families was potentially linked to gene PRSS12, while the other six families remain unlinked.

KEYWORDS:

Linkage analysis; PRSS12; mental retardation; mental retardation locus; neurotrypsin

PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Medknow Publications and Media Pvt Ltd Icon for PubMed Central
    Loading ...
    Support Center