Francomano C A, Ortiz de Luna R I, Hefferon T W, Bellus G A, Turner C E, Taylor E, Meyers D A, Blanton S H, Murray J C, McIntosh I
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
Hum Mol Genet. 1994 May;3(5):787-92. doi: 10.1093/hmg/3.5.787.
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.
利用18个患有软骨发育不全的多代家庭以及该区域的10个短串联重复多态性标记，已将软骨发育不全基因定位到4p16.3。未发现遗传异质性的证据。对一个重组家庭的分析将软骨发育不全基因座定位到D4S43和端粒之间的2.5 Mb区域。多点连锁分析支持将其定位在D4S412的端粒侧。紧密连锁标记的建立将有助于软骨发育不全基因的定位克隆，并为有风险的夫妇进行纯合子软骨发育不全的产前诊断。
