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

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dc.contributor.author A.A. Abbassi
dc.contributor.author S. Farooq
dc.contributor.author Z. Latif
dc.contributor.author I. Ahmad
dc.contributor.author K. Hameed
dc.date.accessioned 2023-03-14T06:02:51Z
dc.date.available 2023-03-14T06:02:51Z
dc.date.issued 2018-03-04
dc.identifier.citation Abbassi, A. A. (2018). EXCLUSION MAPPING OF FAMILIES SEGREGATING AUTOSOMAL RECESSIVE MICROCEPHALY FROM DISTRICT MIRPUR AZAD JAMMU AND KASHMIR. Pakistan Journal of Science, 70(1), 23-29. en_US
dc.identifier.issn 0300-9877
dc.identifier.uri http://142.54.178.187:9060/xmlui/handle/123456789/19059
dc.description.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 autosomal 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 showed 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. en_US
dc.language.iso en en_US
dc.publisher Lahore: Pakistan Association For The Advancement Of Science en_US
dc.subject utosomal recessive primary microcephaly en_US
dc.subject genotyping en_US
dc.subject ASPM en_US
dc.title EXCLUSION MAPPING OF FAMILIES SEGREGATING AUTOSOMAL RECESSIVE MICROCEPHALY FROM DISTRICT MIRPUR AZAD JAMMU AND KASHMIR en_US
dc.type Article en_US


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