毛囊角化病基因定位于12q23 - 24.1的一个2厘摩区域。

Localization of the Darier disease gene to a 2-cM portion of 12q23-24.1.

作者信息

Wakem P, Ikeda S, Haake A, Polakowska R, Ewing N, Sarret Y, Duvic M, Berg D, Bassett A, Kennedy J L, Tuskis A, Epstein E H, Goldsmith L A

机构信息

Department of Dermatology, University of Rochester, NY 14642, USA.

出版信息

J Invest Dermatol. 1996 Feb;106(2):365-7. doi: 10.1111/1523-1747.ep12343145.

DOI:10.1111/1523-1747.ep12343145

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3160983/

Abstract

Positional cloning with microsatellite markers allowed further localization of the Darier disease gene to a 2-cM interval of chromosome 12, 12q23-24.1, between the polymorphic loci D12S234 and D12S129. A region this size is suitable for construction of a contig to identify the Darier disease gene. Use of a polymorphic intronic marker for nitric oxide synthetase 1 gene, which maps to the same chromosomal area as the Darier gene, allowed exclusion of that gene as the Darier disease gene.

摘要

利用微卫星标记进行的定位克隆将 Darier 病基因进一步定位于 12 号染色体 12q23 - 24.1 的一个 2 厘摩区间，该区间位于多态性位点 D12S234 和 D12S129 之间。这样大小的区域适合构建重叠群以鉴定 Darier 病基因。使用与一氧化氮合酶 1 基因相关的多态性内含子标记（该标记定位于与 Darier 基因相同的染色体区域），得以排除该基因作为 Darier 病基因。

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引用本文的文献

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Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.将达里埃病基因座精细定位到12号染色体q24.1区域小于1厘摩的范围内，并构建关键区域完整的高分辨率P1人工染色体/细菌人工染色体重叠群。

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本文引用的文献

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Genomics. 1994 Jan 15;19(2):341-9. doi: 10.1006/geno.1994.1067.

2

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Hum Mol Genet. 1993 Nov;2(11):1941-3. doi: 10.1093/hmg/2.11.1941.

3

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J Invest Dermatol. 1994 Nov;103(5):665-8. doi: 10.1111/1523-1747.ep12398429.

4

Localization of the gene for Darier disease to a 5-cM interval on chromosome 12q.

J Invest Dermatol. 1994 Oct;103(4):478-81. doi: 10.1111/1523-1747.ep12395577.

5

Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129.

Genomics. 1994 Nov 15;24(2):378-82. doi: 10.1006/geno.1994.1632.

6

The 1993-94 Généthon human genetic linkage map.1993 - 1994年热那亚人类遗传连锁图谱。

Nat Genet. 1994 Jun;7(2 Spec No):246-339. doi: 10.1038/ng0694supp-246.

7

Exclusion of the neuronal nitric oxide synthase gene and the human achaete-scute homologue I gene as candidate loci for spinal cerebellar ataxia 2.排除神经元型一氧化氮合酶基因和人类无刚毛-缺刻同源物I基因作为脊髓小脑共济失调2型的候选基因座。

Am J Hum Genet. 1995 Jan;56(1):336-7.

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