与神经纤维瘤病1紧密连锁的八个基因座的遗传分析。
Genetic analysis of eight loci tightly linked to neurofibromatosis 1.
作者信息
Stephens K, Green P, Riccardi V M, Ng S, Rising M, Barker D, Darby J K, Falls K M, Collins F S, Willard H F
机构信息
Department of Human Genetics, Collaborative Research, Inc., Bedford, MA 01730.
出版信息
Am J Hum Genet. 1989 Jan;44(1):13-9.
The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination events in the pericentromeric region were identified, eight involving crossovers between NF1 and loci on either chromosomal arm. Multipoint linkage analysis resulted in the unique placement of six loci at odds greater than 100:1 in the order of pter-A10-41-EW301-NF1-EW207-CRI-L581-CRI-L946 -qter. Owing to insufficient crossovers, three loci--D17Z1, EW206, and EW203--could not be uniquely localized. In this region female recombination rates were significantly higher than those of males. These data were part of a joint study aimed at the localization of both NF1 and tightly linked pericentromeric markers for chromosome 17.
神经纤维瘤病1型（NF1）的基因位点最近已被定位到17号染色体的着丝粒周围区域。我们对50个NF1家族中的8个先前鉴定的限制性片段长度多态性（RFLP）探针进行了基因分型，以确定NF1基因位点相对于RFLP基因位点的位置。在着丝粒周围区域鉴定出38个重组事件，其中8个涉及NF1与任何一条染色体臂上的基因位点之间的交叉。多点连锁分析得出六个基因位点的独特定位，其排列顺序为：端粒- A10 - 41 - EW301 - NF1 - EW207 - CRI - L581 - CRI - L946 - 着丝粒，可能性大于100:1。由于交叉不足，三个基因位点——D17Z1、EW206和EW203——无法唯一地定位。在该区域，女性的重组率明显高于男性。这些数据是一项联合研究的一部分，该研究旨在定位NF1以及17号染色体紧密连锁的着丝粒周围标记。
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