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Abstract
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Article Information:
A Linkage Study in 8 Pakistani Families Segregating as Autosomal Recessive Primary Microcephaly
M. Hassanullah, S.M. Ibrahim, S. Ahmad, N. Muhammad, Rafiullah, M. Asif, Shahabuddin
Corresponding Author: Muhammad Hassanullah
Submitted: 2011 April, 18
Accepted: 2011 May, 19
Published: 2011 July, 15 |
Abstract:
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The current study was designed to find the most frequent MCPH phenotype in inbred Pakistani
families. Primary microcephaly is marked by small brain size and is usually inherited as recessive trait. In the
present study, we performed linkage analysis on 8 Pakistani families with autosomal recessive primary
microcephaly (MCPH) and linked 6 of them to known MCPH genes/loci like MCPH1 (Microcephalin),
MCPH3 (CDK5RAP2) and MCPH5 (ASPM). Majority of the families showed linkage with MCPH5, the most
common MCPH locus in Pakistan. The linked families were then subjected to mutational analysis, revealing
a previously known G to A transition at nucleotide position 3978 in exon 17 of ASPM gene in three of the
families. To decrease its incidence, it is indispensible to train the people of the possible devastating outcome
of cousin marriages and to find the carriers through carrier screening programs.
Key words: ASPM, consanguineous marriages, linkage analysis, primary microcephaly, , ,
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Cite this Reference:
M. Hassanullah, S.M. Ibrahim, S. Ahmad, N. Muhammad, Rafiullah, M. Asif, Shahabuddin, . A Linkage Study in 8 Pakistani Families Segregating as Autosomal Recessive Primary Microcephaly. Current Research Journal of Biological Sciences, (4): 363-374.
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ISSN (Online): 2041-0778
ISSN (Print): 2041-076X |
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