毛囊角化病性秃发：与Xp22.13 - p22.2连锁关系的确证
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.
作者信息
Porteous M E, Strain L, Logie L J, Herd R M, Benton E C
机构信息
Human Genetics Unit, Western General Hospital, Edinburgh, UK.
出版信息
J Med Genet. 1998 Apr;35(4):336-7. doi: 10.1136/jmg.35.4.336.
Abstract
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). We have studied a large British family with KFSD using polymorphic markers from Xp21-p23 and obtained a lod score of 2.056 at theta=0 with markers proximal and distal to the KFSD candidate region Xp22.13-p22.2 identified by Oosterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed in the previously reported Dutch family, but fail to narrow the candidate interval for the KFSD locus.
摘要
毛囊角化性棘皮瘤性脱发（KFSD）是一种罕见的X连锁疾病，累及皮肤和眼睛（MIM 308800）。我们使用来自Xp21 - p23的多态性标记物对一个患有KFSD的英国家庭进行了研究，并在θ=0时，针对Oosterwijk等人确定的KFSD候选区域Xp22.13 - p22.2近端和远端的标记物获得了2.056的连锁值。我们的数据证实了在先前报道的荷兰家庭中观察到的与Xp22.13 - p22.2的连锁关系，但未能缩小KFSD基因座的候选区间。
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本文引用的文献
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Keratosis follicularis spinulosa decalvans: report of a new pedigree.毛囊角化病秃发型：一个新谱系的报告。
Br J Dermatol. 1996 Jan;134(1):138-42.
2
3
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.X连锁毛囊角化病（KFSD）基因在Xp22.13 - p22.2区域定位的细化
J Med Genet. 1995 Sep;32(9):736-9. doi: 10.1136/jmg.32.9.736.
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Easy calculations of lod scores and genetic risks on small computers.在小型计算机上轻松计算连锁分析计分和遗传风险。
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Keratosis follicularis spinulosa decalvans. Report of two cases and literature review.毛囊角化病性秃发。两例报告及文献复习。
Arch Dermatol. 1983 Jan;119(1):22-6. doi: 10.1001/archderm.119.1.22.
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Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.毛囊角化病性秃发：7例男性病例和6例女性携带者的家系研究
J Med Genet. 1992 Jan;29(1):36-40. doi: 10.1136/jmg.29.1.36.
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