使用17号染色体DNA标记对I型神经纤维瘤病进行连锁分析。
Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers.
作者信息
Kittur S D, Bagdon M M, Lubs M L, Phillips J A, Murray J C, Slaugenhaupt S A, Chakravarti A, Adler W H
机构信息
National Institute on Aging, Gerontology Research Center, Baltimore, MD 21224.
出版信息
Am J Hum Genet. 1989 Jan;44(1):48-50.
The gene for von Recklinghausen neurofibromatosis type 1 (NF1) has recently been mapped to the pericentromeric region of human chromosome 17. To further localize the NF1 gene, linkage analysis using chromosome 17 DNA markers was performed on 11 multigeneration families with 175 individuals, 57 of whom were affected. The markers used were D17Z1 (p17H8), D17S58 (EW301), D17S54 (EW203), D17S57 (EW206), D17S73 (EW207), CRI-L946, HOX-2, and growth hormone. Tight linkage was found between NF1 and D17Z1, D17S58, and D17S57 with a recombination fraction of zero. One recombinant was detected between NF1 and D17S73, showing linkage with a 10% recombination fraction. No linkage was detected between NF1 and CRI-L946 or between HOX-2 and growth hormone. Our data are consistent with the proposed gene order pter D17S58-D17Z1-NF1-D17S57-D17S73 qter.
1型冯雷克林霍增氏神经纤维瘤病（NF1）的基因最近已被定位于人类17号染色体的着丝粒周围区域。为了进一步定位NF1基因，我们利用17号染色体DNA标记对11个多代家庭中的175人进行了连锁分析，其中57人患病。所用的标记为D17Z1（p17H8）、D17S58（EW301）、D17S54（EW203）、D17S57（EW206）、D17S73（EW207）、CRI-L946、HOX-2和生长激素。发现NF1与D17Z1、D17S58和D17S57紧密连锁，重组率为零。在NF1与D17S73之间检测到一个重组体，显示连锁且重组率为10%。在NF1与CRI-L946之间或HOX-2与生长激素之间未检测到连锁。我们的数据与所提出的基因顺序pter D17S58-D17Z1-NF1-D17S57-D17S73 qter一致。
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