Linkage analysis of neurofibromatosis (von Recklinghausen disease).
Linkage analysis of neurofibromatosis (von Recklinghausen disease).
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神经纤维瘤病（冯·雷克林豪森病）的连锁分析。
DOI：
10.1136/jmg.20.5.334
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发表时间：
1983
影响因子：
4
通讯作者：
Sparkes,RS
中科院分区：
文献类型：
--
作者：
Spence,MA;Bader,JL;Parry,DM;Field,LL;Funderburk,SJ;Rubenstein,AE;Gilman,PA;Sparkes,RS
对来自11个家系的108名研究对象进行了28个遗传标记的连锁分析，这些患者都患有典型的外周神经纤维瘤病。1个四代人家庭、7个三代人家庭和3个两代人家庭54人受到影响。使用标准的LIPED程序计算了49组theta男性和theta女性组合的LOD分数，范围从0.01到0.50。LOD评分排除了16个与强直性肌营养不良密切相关的标记，包括1号染色体上的大多数标记和6号染色体上的人类白细胞抗原，而包括分泌器基因在内的12个标记与强直性肌营养不良密切相关。对5个信息家系的分析表明，与4号染色体上的GC紧密连锁的Lod得分为+2.2。然而，在另一个信息家系中，GC的Lod得分为负，因此最终的内插最大值为Z=0.89，其中theta男性=0.03，theta女性=0.28。需要进一步的研究来评估这一连锁和可能的遗传异质性的暗示。
Linkage analysis of 28 genetic markers was undertaken in 108 subjects from 11 families with well-documented, classic, peripheral neurofibromatosis. Fifty-four persons were affected in one four-generation family, seven three-generation families, and three two-generation families. Lod scores were calculated using the standard LIPED programme for 49 combinations of theta male and theta female from 0.01 to 0.50. Lod scores excluded close linkage with 16 markers, including most tested on chromosome 1 and HLA on chromosome 6, and were inconclusive for 12 markers, including the secretor locus, closely linked to myotonic dystrophy. Analysis of five informative families resulted in a lod score of +2.2 for close linkage with GC on chromosome 4. However, the lod score for GC in the one additional informative family was negative, so that the final interpolated maximum was Z = 0.89 for theta male = 0.03, theta female = 0.28. Further studies are needed to evaluate this suggestion of linkage and possible genetic heterogeneity.