Jackson A P, McHale D P, Campbell D A, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene M I, Mueller R F, Markham A F, Lench N J, Woods C G
Molecular Medicine Unit, St.James's University Hospital, Leeds LS9 7TF, United Kingdom.
Am J Hum Genet. 1998 Aug;63(2):541-6. doi: 10.1086/301966.
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.
原发性（或“真性”）小头畸形以常染色体隐性性状遗传，被认为具有遗传异质性。通过纯合性定位，我们在两个巴基斯坦裔近亲家庭中，于8号染色体p22 - pter区域确定了一个原发性小头畸形的基因位点（MCPH1）。我们的研究结果表明，该基因位于标记D8S1824和D8S1825之间13厘摩的区域内（在D8S277处最大多点对数优势分数为8.1）。此外，我们通过分析总共九个患有原发性小头畸形的近亲家庭，证实了这种病症的遗传异质性。
