X连锁毛囊角化病（KFSD）基因在Xp22.13 - p22.2区域定位的细化
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.
作者信息
Oosterwijk J C, van der Wielen M J, van de Vosse E, Voorhoeve E, Bakker E
机构信息
Clinical Genetics Centre, Leiden University Hospital, The Netherlands.
出版信息
J Med Genet. 1995 Sep;32(9):736-9. doi: 10.1136/jmg.32.9.736.
X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting the skin and eyes. The disease was previously mapped in an extended Dutch family to Xp21.2-p22.2 between DXS16 and DXS269. Using five DNA probes and 14 CA repeat polymorphisms spanning this region an extensive linkage study was performed in the same pedigree. The highest lod scores were 12.07 for DXS365 (pRX-314) at 0 = 0, 11.72 for DXS418 (P122) at 0 = 0.015, and 10.93 for DXS989 (AFM135xe7) at 0 = 0.045. Analysis of recombination events locates the gene for KFSD between AFM291wf5 and DXS1226 (AFM316yf5). This is region Xp22.13-p22.2, an area covering approximately 1 Mb. These data confirm and greatly refine the regional localisation of KFSD and greatly improve reliability of carrier detection.
X连锁毛囊角化性棘状秃发（KFSD）是一种影响皮肤和眼睛的罕见疾病。该疾病先前在一个荷兰大家庭中被定位到Xp21.2 - p22.2，位于DXS16和DXS269之间。使用五个DNA探针和跨越该区域的14个CA重复多态性，在同一个家系中进行了广泛的连锁研究。对于DXS365（pRX - 314），在θ = 0时最高lod分数为12.07；对于DXS418（P122），在θ = 0.015时为11.72；对于DXS989（AFM135xe7），在θ = 0.045时为10.93。重组事件分析将KFSD基因定位在AFM291wf5和DXS1226（AFM316yf5）之间。这是Xp22.13 - p22.2区域，一个覆盖约1 Mb的区域。这些数据证实并极大地细化了KFSD的区域定位，并大大提高了携带者检测的可靠性。
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