Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
复制标题
软骨发育不全基因定位于人类染色体 4p 远端 2.5 Mb。
DOI：
10.1093/hmg/3.5.787
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发表时间：
1994
影响因子：
3.5
通讯作者：
McIntosh,I
中科院分区：
文献类型：
--
作者：
Francomano,CA;OrtizdeLuna,RI;Hefferon,TW;Bellus,GA;Turner,CE;Taylor,E;Meyers,DA;Blanton,SH;Murray,JC;McIntosh,I
软骨发育不全已定位于4p16。3利用18个软骨发育不全多代克隆家系和10个短串联重复序列多态性标记对该地区的18个家系进行了分析。对一个重组家族的分析将软骨发育不全基因定位于2。D4S43和端粒之间的5Mb区域。多点连锁分析支持D4S412的定位端粒。建立紧密连锁的标记将有助于软骨发育不全基因的定位克隆，并允许对高危夫妇进行纯合子软骨发育不全的产前诊断。
Achondroplasia has been mapped to 4p16. 3 using 18 multigeneratlonal 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 telomerlc 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.