17号染色体标记与冯雷克林霍增氏神经纤维瘤病：一项针对英国人群的基因连锁研究

Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population.

作者信息

Upadhyaya M, Sarfarazi M, Huson S M, Stephens K, Broadhead W, Harper P S

机构信息

Institute of Medical Genetics, University of Wales College of Medicine, Health Park, Cardiff, United Kingdom.

出版信息

Genomics. 1987 Dec;1(4):358-60. doi: 10.1016/0888-7543(87)90038-3.

DOI:10.1016/0888-7543(87)90038-3

PMID:2896630

Abstract

A genetic linkage study of the RFLPs identified by nine DNA probes localized to the pericentromeric region and long arm of chromosome 17 has been undertaken in 16 families with von Recklinghausen neurofibromatosis (NF1). Close linkage has been shown with the markers CRI-L946 (D17S36), CRI-L581 (D17S37), p17H8 (D17Z1), and pA10-41 (D17S71). The ERBA1 and COL1A1 loci may also be closely linked, but the data are limited. The results for HOX2 and NGFR suggest only loose linkage with the NF1 gene, while no linkage was found between NF1 and the growth hormone locus. No suggestion of nonallelic heterogeneity of NF1 was found in this study.

摘要

对16个患有冯雷克林霍增氏神经纤维瘤病（NF1）的家族进行了一项基因连锁研究，该研究针对由9个定位在17号染色体着丝粒周围区域和长臂的DNA探针所识别的限制性片段长度多态性（RFLP）。已表明与标记物CRI-L946（D17S36）、CRI-L581（D17S37）、p17H8（D17Z1）和pA10-41（D17S71）紧密连锁。ERBA1和COL1A1基因座可能也紧密连锁，但数据有限。HOX2和NGFR的结果表明与NF1基因仅存在松散连锁，而在NF1与生长激素基因座之间未发现连锁。在本研究中未发现NF1存在非等位基因异质性的迹象。