X连锁视网膜色素变性与10个限制性片段长度多态性（RFLP）位点图谱之间的连锁异质性。
Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci.
作者信息
Chen J D, Halliday F, Keith G, Sheffield L, Dickinson P, Gray R, Constable I, Denton M
机构信息
Division of Pathology, Prince of Wales Hospital, Sydney, Australia.
出版信息
Am J Hum Genet. 1989 Sep;45(3):401-11.
Abstract
In nine families in which X-linked retinitis pigmentosa (XLRP) is segregating, the lod scores of XLRP in a map of 10 RFLP loci were obtained by multipoint linkage analysis. The XLRP locus was located telomeric to DXS7 in seven of the families and centromeric to DXS7 in two of the families. Under the hypothesis of two XLRP loci, a heterogeneity (admixture) test was performed, providing significant evidence of heterogeneity in XLRP (P less than .01). No correlation was detected between the clinical manifestations of XLRP and the two different disease loci.
摘要
在九个X连锁视网膜色素变性（XLRP）正在进行家系分离的家庭中，通过多点连锁分析获得了XLRP在10个限制性片段长度多态性（RFLP）位点图谱中的连锁值。在七个家庭中，XLRP基因座位于DXS7的端粒侧，在两个家庭中位于DXS7的着丝粒侧。在两个XLRP基因座的假设下，进行了异质性（混合）检验，提供了XLRP存在异质性的显著证据（P小于0.01）。未检测到XLRP的临床表现与两个不同疾病基因座之间存在相关性。
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本文引用的文献
1
TESTING FOR HETEROGENEITY OF RECOMBINATION FRACTION VALUES IN HUMAN GENETICS.人类遗传学中重组率值的异质性检验
Ann Hum Genet. 1963 Nov;27:175-82. doi: 10.1111/j.1469-1809.1963.tb00210.x.
2
DNA probes in X-linked retinitis pigmentosa.X连锁视网膜色素变性中的DNA探针
Trans Ophthalmol Soc U K (1962). 1983;103 ( Pt 4):467-74.
3
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
4
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.X连锁视网膜色素变性与经重组DNA探针L1.28鉴定的限制性片段长度多态性之间的紧密遗传连锁。
Nature. 1984;309(5965):253-5. doi: 10.1038/309253a0.
5
The genetic linkage map of the human X chromosome.人类X染色体的遗传连锁图谱。
Science. 1985 Nov 15;230(4727):753-8. doi: 10.1126/science.4059909.
6
7
Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.X和Y染色体遗传构成委员会报告
Cytogenet Cell Genet. 1985;40(1-4):296-352. doi: 10.1159/000132178.
8
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9
10
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