- 期刊
- OpenAccess
A Linkage Study in 8 Pakistani Families Segregating as Autosomal Recessive Primary Microcephaly
並列摘要
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.