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

来源：

NATURE GENETICS | 1994年 / 6卷 / 03期

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.

引用

页码：314 / 317

页数：4

共 41 条

[21]

Padanilam B. J., 1992, Human Molecular Genetics, V1, P407, DOI 10.1093/hmg/1.6.407

[22]

PAULI RM, 1983, AM J MED GENET, V16, P459, DOI 10.1002/ajmg.1320160404

[23] PROTEOGLYCANS AND GLYCOSAMINOGLYCANS OF HUMAN ACHONDROPLASTIC CARTILAGE [J].