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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 17, No. 2, 2011, pp. 65-69
Bioline Code: hg11016
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 17, No. 2, 2011, pp. 65-69

 en Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis
Ali, Zafar; Babar, Masroor Ellahi.; Ahmad, Jamil; Yousaf, Muhammad Zubair.; Asif, Muhammad & Shah, Sajjad Ali.


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.

Linkage analysis, mental retardation, mental retardation locus, neurotrypsin, PRSS12

© Copyright 2011 Indian Journal of Human Genetics.
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