1型神经纤维瘤病的连锁分析。对意大利北部一个具有17号染色体五个DNA标记的同质人群的研究。

Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17.

作者信息

Clementi M, Murgia A, Anglani F, Tenconi R, Turolla L, Picci L, Zacchello F

机构信息

Servizio di Genetica Medica, Dipartimento di Pediatria, Università di Padova, Italy.

出版信息

Hum Genet. 1991 May;87(1):91-4. doi: 10.1007/BF01213101.

DOI:10.1007/BF01213101

PMID:1674720

Abstract

The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) Italian families using five loci tightly linked to NF1: D17S33, D17S82, D17S83, D17S37, and D17S36. A two-point linkage analysis was performed with the LINKAGE and the CRI-MAP programs. The map of the region was constructed using the MAP90 program. Data from the present study lend further support to evidence that all NF1 mutations are allelic and that the NF1 locus resides in the proximal region of chromosome 17q. Close linkage of NF1 to all the markers was found. Two of them, namely D17S82 and D17S83, showed the highest linkage with a value of 0 recombination frequency and lod scores of 3.77 and 4.02, respectively. The best map found is D17S33-D17S82-NF1-D17S83-D17S37-D17S36+ ++. The authors stress that knowledge of precise order is essential; if D17S82 and D17S83 are proved to flank the NF1 gene, they allow an acceptable presymptomatic diagnosis in informative families.

摘要

作者报告了一项基因分析的结果，该分析在34个意大利1型神经纤维瘤病（NF1）家庭中进行，使用了与NF1紧密连锁的5个基因座：D17S33、D17S82、D17S83、D17S37和D17S36。使用LINKAGE和CRI-MAP程序进行了两点连锁分析。使用MAP90程序构建了该区域的图谱。本研究的数据进一步支持了所有NF1突变均为等位基因且NF1基因座位于17号染色体长臂近端区域的证据。发现NF1与所有标记紧密连锁。其中两个标记，即D17S82和D17S83，显示出最高的连锁性，重组频率值为0，对数优势分数分别为3.77和4.02。找到的最佳图谱是D17S33-D17S82-NF1-D17S83-D17S37-D17S36 +++。作者强调精确顺序的知识至关重要；如果证明D17S82和D17S83位于NF1基因两侧，它们可在信息丰富的家庭中进行可接受的症状前诊断。