神经纤维瘤病（冯·雷克林豪森病）的连锁分析
Linkage analysis of neurofibromatosis (von Recklinghausen disease).
作者信息
Spence M A, Bader J L, Parry D M, Field L L, Funderburk S J, Rubenstein A E, Gilman P A, Sparkes R S
出版信息
J Med Genet. 1983 Oct;20(5):334-7. doi: 10.1136/jmg.20.5.334.
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.
对来自11个家族的108名受试者进行了28个遗传标记的连锁分析，这些家族都有记录完备的典型外周神经纤维瘤病。在一个四代家族中有54人患病，7个三代家族和3个二代家族中有患者。使用标准的LIPED程序计算了θ男性和θ女性从0.01到0.50的49种组合的连锁值。连锁值排除了与16个标记的紧密连锁，包括在1号染色体上测试的大多数标记以及6号染色体上的HLA，对于12个标记（包括与强直性肌营养不良紧密连锁的分泌型位点）的结果尚无定论。对5个信息丰富的家族进行分析，结果显示与4号染色体上的GC紧密连锁的连锁值为+2.2。然而，在另一个信息丰富的家族中，GC的连锁值为负，因此最终插值最大值为Z = 0.89，此时θ男性 = 0.03，θ女性 = 0.28。需要进一步研究来评估这种连锁关系以及可能存在的遗传异质性。
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