卡尔曼综合征和X连锁眼白化病基因座的基因定位。
Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.
作者信息
Zhang Y, McMahon R, Charles S J, Green J S, Moore A T, Barton D E, Yates J R
机构信息
Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge, UK.
出版信息
J Med Genet. 1993 Nov;30(11):923-5. doi: 10.1136/jmg.30.11.923.
The X linked form of Kallmann syndrome (KAL) and X linked ocular albinism (OA1) have both been mapped to Xp22.3. We have used a dinucleotide repeat polymorphism at the Kallmann locus to type 17 X linked ocular albinism families which had previously been typed for the Xg blood group (XG) and the DNA markers DXS237 (GMGX9), DXS143 (dic56), and DXS85 (782). Close linkage was found between KAL and OA1 with a maximum lod score (Zmax) of 30.14 at a recombination fraction (theta max) of 0.06 (confidence interval for theta: 0.03-0.10). KAL was also closely linked to DXS237 (Zmax = 15.32; theta max = 0.05; CI 0.02-0.12) and DXS143 (Zmax = 14.57; theta max = 0.05; CI 0.02-0.13). There was looser linkage to the Xg blood group (XG) and to DXS85 (782). Multipoint linkage analysis gave the map: Xpter-XG-0.13-DXS237-0.025-KAL-0.025-DXS143-0.01 5-OA1-0.09-DXS85-Xcen. Placement of OA1 proximal to DXS143 was supported by odds of 2300:1 compared to other orders. This confirms our previous localisation of OA1 and improves the genetic mapping of both disease loci.
卡尔曼综合征（KAL）的X连锁形式和X连锁眼白化病（OA1）都已被定位到Xp22.3。我们利用卡尔曼基因座处的二核苷酸重复多态性对17个X连锁眼白化病家系进行分型，这些家系之前已针对Xg血型（XG）以及DNA标记DXS237（GMGX9）、DXS143（dic56）和DXS85（782）进行分型。发现KAL和OA1之间存在紧密连锁，在重组率（θmax）为0.06时最大似然比分数（Zmax）为30.14（θ的置信区间：0.03 - 0.10）。KAL也与DXS237紧密连锁（Zmax = 15.32；θmax = 0.05；CI 0.02 - 0.12）以及与DXS143紧密连锁（Zmax = 14.57；θmax = 0.05；CI 0.02 - 0.13）。与Xg血型（XG）和DXS85（782）的连锁较松散。多点连锁分析给出的图谱为：Xpter - XG - 0.13 - DXS237 - 0.025 - KAL - 0.025 - DXS143 - 0.015 - OA1 - 0.09 - DXS85 - Xcen。与其他排序相比，OA1位于DXS143近端的可能性为2300:1。这证实了我们之前对OA1的定位，并改进了两个疾病基因座的遗传图谱。
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