THE GENE FOR ACHONDROPLASIA MAPS TO THE TELOMERIC REGION OF CHROMOSOME 4P

被引:87
作者
VELINOV, M
SLAUGENHAUPT, SA
STOILOV, I
SCOTT, CI
GUSELLA, JF
TSIPOURAS, P
机构
[1] UNIV CONNECTICUT,CTR HLTH,DEPT PEDIAT,FARMINGTON,CT 06030
[2] MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT,BOSTON,MA 02129
[3] HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA
[4] ALFRED I DUPONT INST,DIV MED GENET,WILMINGTON,DE 19899
关键词
D O I
10.1038/ng0394-314
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. We have now mapped the achondroplasia gene near the telomere of the short arm of chromosome 4 (4p16.3), by family linkage studies using 14 pedigrees. A positive lod score of z=3.35 with no recombinants was obtained with an intragenic marker for IDUA. This localization wilt facilitate the positional cloning of the disease gene.
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页码:314 / 317
页数:4
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