EXCLUSION MAPPING OF FAMILIES SEGREGATING AUTOSOMAL RECESSIVE MICROCEPHALY FROM DISTRICT MIRPUR AZAD JAMMU AND KASHMIR

Abstract

Autosomal recessive primary microcephaly is due to genetic causes but several environmental factors also play role in disease development. It is heterogeneous disorder and seventeen loci for a utosomal recessive primary microcephaly have been identified. Pakistani population has strong history of consanguineous marriages. For the present study two families A and B were ascertained from different localities of District Mirpur Azad Jammu and Kashmir depicting autosomal recessive primary microcephaly. Evaluation was done on the basis of phenotypic observation and pedigree construction. Blood samples of all affected and normal individuals of both families were analyzed for linkage analysis by microsatellite markers application. Genotyping data show ed heterozygous banding pattern regardless of affected or normal individuals. This family may involve some novel loci or mutation. The linkage at MCPH5 locus was established in family B, associated earlier in causing microcephaly with mutation in ASPM gene. Further research is needed to refine the results to find out the actual reason of MCPH by genome wide scan techniques in family A.