Brunner H G, van Bennekom A, Lambermon E M, Oei T L, Cremers W R, Wieringa B, Ropers H H
Department of Human Genetics, Catholic University, Nijmegen, The Netherlands.
Hum Genet. 1988 Dec;80(4):337-40. doi: 10.1007/BF00273647.
A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located at Xq13. Tight linkage was excluded for DXS9 (probe RC8) and DXS41 (probe 99.6) on Xp and for blood clotting factor 9 (FIX) on distal Xq. Deafness is one of the predominant clinical features in males with deletions of the Xq21 band. Our results suggest that this association may be due to involvement of the DFN3 gene.
利用一组X染色体限制性片段长度多态性（RFLP），对一个患有进行性混合性耳聋且在镫骨手术期间出现外淋巴瘘的大型荷兰家族（DFN3）进行了连锁分析。结果显示，该家族与位于Xq13的磷酸甘油酸激酶（PGK）基因座紧密连锁（在重组率θ = 0.00时，Zmax = 3.07）。排除了Xp上的DXS9（探针RC8）和DXS41（探针99.6）以及Xq远端的凝血因子9（FIX）与该疾病的紧密连锁。耳聋是Xq21带缺失男性的主要临床特征之一。我们的结果表明，这种关联可能是由于DFN3基因的参与。
