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Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

ABSTRACT: Primary (or "true") microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous. Using autozygosity mapping, we have identified a genetic locus (MCPH1) for primary microcephaly, at chromosome 8p22-pter, in two consanguineous families of Pakistani origin. Our results indicate that the gene lies within a 13-cM region between the markers D8S1824 and D8S1825 (maximum multipoint LOD score of 8.1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly.

SUBMITTER: Jackson AP

PROVIDER: S-EPMC1377307 | biostudies-other | 1998 Aug

REPOSITORIES: biostudies-other

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Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Jackson A P AP McHale D P DP Campbell D A DA Jafri H H Rashid Y Y Mannan J J Karbani G G Corry P P Levene M I MI Mueller R F RF Markham A F AF Lench N J NJ Woods C G CG

American journal of human genetics 19980801 2

Primary (or "true") microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous. Using autozygosity mapping, we have identified a genetic locus (MCPH1) for primary microcephaly, at chromosome 8p22-pter, in two consanguineous families of Pakistani origin. Our results indicate that the gene lies within a 13-cM region between the markers D8S1824 and D8S1825 (maximum multipoint LOD score of 8.1 at D8S277). In addition, we have demonstrated the genetic het ...[more]

PMID: 9683597

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