对英国和南非患有I型神经纤维瘤病家庭的17号染色体标记进行连锁分析。
Linkage analysis of chromosome 17 markers in British and South African families with neurofibromatosis type I.
作者信息
Mathew C G, Thorpe K, Easton D F, Chin K S, Jadayel D, Ponder M, Moore G, Wallis C E, Slater C P, De Jong G
机构信息
Section of Human Cancer Genetics, Institute of Cancer Research, Surrey, United Kingdom.
出版信息
Am J Hum Genet. 1989 Jan;44(1):38-40.
Abstract
Nine markers from the pericentromeric region of chromosome 17 were typed in 16 British and five South African families with neurofibromatosis type 1 (NF1). The markers--p17H8, pHHH202, and EW204--were linked to NF1 at recombination fractions less than 1%. No evidence of locus heterogeneity was detected. Inspection of recombinant events in families informative for several markers suggests that the NF1 gene is located between the markers EW301 (cen-p11.2) and EW206 (cen-q12) and possibly distal to pHHH202 (q11.2-q12).
摘要
在16个英国家庭和5个南非患有1型神经纤维瘤病（NF1）的家庭中，对来自17号染色体着丝粒周围区域的9个标记进行了分型。标记p17H8、pHHH202和EW204与NF1的连锁重组率小于1%。未检测到基因座异质性的证据。对具有多个标记信息的家庭中的重组事件进行检查表明，NF1基因位于标记EW301（cen-p11.2）和EW206（cen-q12）之间，可能在pHHH202（q11.2-q12）的远端。
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