LOCALIZATION OF THE ACHONDROPLASIA GENE TO THE DISTAL 2.5 MB OF HUMAN-CHROMOSOME-4P

被引：56

作者：

FRANCOMANO, CA

DELUNA, RIO

HEFFERON, TW

BELLUS, GA

TURNER, CE

TAYLOR, E

MEYERS, DA

BLANTON, SH

MURRAY, JC

MCINTOSH, I

HECHT, JT

机构：

[1] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21287

[2] UNIV VIRGINIA,SCH MED,DEPT PEDIAT,CHARLOTTESVILLE,VA 22908

[3] UNIV IOWA,DEPT PEDIAT,IOWA CITY,IA 52245

[4] UNIV TEXAS,SCH MED,DEPT PEDIAT,HOUSTON,TX 77225

[5] HOSP INFANTIL MEXICO DR FEDERICO GOMEZ,GENET UNIT MARIO GONZALEZ RAMOS,MEXICO CITY,MEXICO

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 05期

关键词：

D O I：

10.1093/hmg/3.5.787

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Achondroplasia has been mapped to 4p16.3 using 18 multigenerational families with achondroplasia and 10 short tandem repeat polymorphic markers from this region. No evidence of genetic heterogeneity was found. Analysis of a recombinant family localizes the achondroplasia locus to the 2.5 Mb region between D4S43 and the telomere. Multipoint linkage analysis favors placement telomeric of D4S412. The establishment of closely linked markers will facilitate positional cloning of the achondroplasia gene and permit prenatal diagnosis of homozygous achondroplasia for at risk couples.

引用

页码：787 / 792

页数：6

共 49 条

[31] SKELETAL GROWTH IN ACHONDROPLASIA [J].