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Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping
Author(s) -
Ianakiev P,
Kilpatrick Mw,
Daly Mj,
Zolindaki A,
Bagley D,
Beighton G,
Beighton P,
Tsipouras P
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.570406.x
Subject(s) - genetics , disease gene identification , biology , identity by descent , chromosome , gene mapping , population , gene , dysplasia , genetic marker , haplotype , allele , phenotype , medicine , environmental health , exome sequencing
The acromesomelic dysplasias (AMDs) are a group of genetic disorders that primarily affect the middle and distal segments of the extremities. A form of AMD is present on the isolated island of St Helena in the South Atlantic, which has a population of approximately 5500 derived from a number of founder individuals. DNA from four affected individuals and 11 first‐degree relatives in four related nuclear families segregating an AMD was collected for gene mapping studies. Six consecutive markers on chromosome 9, spanning an approximately 5 cM region, showed identical homozygosity in all affected individuals, thus identifying a region of homozygosity by descent. Multipoint analysis generated a maximum lod score of Z=2.85. These data localize the gene for this dysplasia to the pericentromeric region of chromosome 9 where the gene for the Maroteaux form of AMD is situated. The identification of the gene responsible for this disorder may shed further light on the complex processes involved in limb morphogenesis.