围绕冯雷克林霍增氏神经纤维瘤病（NF1）基因的17号染色体区域的精细遗传图谱。
A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.
作者信息
Diehl S R, Boehnke M, Erickson R P, Ploughman L M, Seiler K A, Lieberman J L, Clarke H B, Bruce M A, Schorry E K, Pericak-Vance M
机构信息
Department of Human Genetics, University of Michigan, Ann Arbor.
出版信息
Am J Hum Genet. 1989 Jan;44(1):33-7.
The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 affected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.
冯·雷克林霍增氏神经纤维瘤病（NF1）基因已被定位于17号染色体的着丝粒周围区域。我们使用来自该染色体区域的10个多态性DNA标记对NF1进行连锁分析。我们确定了密歇根州和俄亥俄州的20个美籍高加索NF1家族（163人，98人受NF1影响），并研究了一个主要在北卡罗来纳州确定的大家族。本研究使用了以下标记：HHH202、TH17.19、D17Z1、ERBA1、EW203、EW206、EW207、EW301、CRI-L581和CRI-L946。在任何被调查的信息性减数分裂中，NF1与TH17.19或HHH202均未发生重组（在重组率为0.00时，最大lod分数分别为17.04和7.21），这表明这些标记与NF1基因的定位非常接近。我们还报告了NF1与着丝粒标记D17Z发生3次重组的证据（在重组率为0.04时，最大lod分数为13.43），以及标记位点对之间的2次交叉。我们没有发现位点异质性的证据，我们的结果支持将NF1基因定位到17号染色体长臂近端。
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