Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.
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.
Molecular Medicine Unit, St.James's University Hospital, Leeds LS9 7TF, United Kingdom. medapj@leeds.ac.uk
A P
AP
Jackson
D P
DP
McHale
D A
DA
Campbell
H
H
Jafri
Y
Y
Rashid
J
J
Mannan
G
G
Karbani
P
P
Corry
M I
MI
Levene
R F
RF
Mueller
A F
AF
Markham
N J
NJ
Lench
C G
CG
Woods
D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D003241:Consanguinity; D005190:Family; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D018895:Microsatellite Repeats; D010154:Pakistan / Q000208:ethnology; D011336:Probability; D006113:United Kingdom
D005819:Genetic Markers