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

  title={Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.},
  author={Andrew P. Jackson and Duncan P. McHale and David A. Campbell and Hussain Ali Jafri and Yasmin Rashid and Jovaria Mannan and Gulshan A Karbani and Peter J. Corry and Malcolm I Levene and Robert Franz M{\"u}ller and Alexander F. Markham and Nicholas J. Lench and C Geoffrey Woods},
  journal={American journal of human genetics},
  volume={63 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… CONTINUE READING


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