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一种头皮单纯性毛发稀少症的基因定位于6号染色体p21.3区域。

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.

作者信息

Betz R C, Lee Y A, Bygum A, Brandrup F, Bernal A I, Toribio J, Alvarez J I, Kukuk G M, Ibsen H H, Rasmussen H B, Wienker T F, Reis A, Propping P, Kruse R, Cichon S, Nöthen M M

机构信息

Institute of Human Genetics, University of Bonn, D-53111 Bonn, Germany.

出版信息

Am J Hum Genet. 2000 Jun;66(6):1979-83. doi: 10.1086/302934. Epub 2000 May 2.

DOI:10.1086/302934
PMID:10793007
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1378055/
Abstract

Hypotrichosis simplex of the scalp (HSS) is an autosomal dominant form of isolated alopecia causing almost complete loss of scalp hair, with onset in childhood. After exclusion of candidate regions previously associated with hair-loss disorders, we performed a genomewide linkage analysis in two Danish families and localized the gene to chromosome 6p21.3. This was confirmed in a Spanish family, with a total LOD score of 11.97 for marker D6S1701 in all families. The combined haplotype data identify a critical interval of 14.9 cM between markers D6S276 and D6S1607. Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp.

摘要

头皮单纯性毛发稀少症（HSS）是一种常染色体显性遗传的孤立性脱发疾病，可导致头皮毛发几乎完全脱落，发病于儿童期。在排除先前与脱发疾病相关的候选区域后，我们对两个丹麦家庭进行了全基因组连锁分析，并将该基因定位到6号染色体p21.3区域。这一结果在一个西班牙家庭中得到了证实，所有家庭中标记物D6S1701的总对数优势分数为11.97。合并的单倍型数据确定了标记物D6S276和D6S1607之间14.9厘摩的关键区间。将HSS基因座定位到6p21.3区域是鉴定该基因的第一步。该基因将为头皮毛发生长的分子和细胞基础提供重要见解。

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本文引用的文献

1
Alopecia areata in families: association with the HLA locus.
J Investig Dermatol Symp Proc. 1999 Dec;4(3):220-3. doi: 10.1038/sj.jidsp.5640215.
2
The genetic basis of alopecia areata: HLA associations with patchy alopecia areata versus alopecia totalis and alopecia universalis.
J Investig Dermatol Symp Proc. 1999 Dec;4(3):216-9. doi: 10.1038/sj.jidsp.5640214.
3
Involvement of a novel Tnf receptor homologue in hair follicle induction.
Nat Genet. 1999 Aug;22(4):370-4. doi: 10.1038/11943.
4
Exposing the human nude phenotype.
Nature. 1999 Apr 8;398(6727):473-4. doi: 10.1038/18997.
5
Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.
Hum Mol Genet. 1998 Oct;7(11):1671-9. doi: 10.1093/hmg/7.11.1671.
6
Comprehensive human genetic maps: individual and sex-specific variation in recombination.
Am J Hum Genet. 1998 Sep;63(3):861-9. doi: 10.1086/302011.
7
Alopecia universalis associated with a mutation in the human hairless gene.
Science. 1998 Jan 30;279(5351):720-4. doi: 10.1126/science.279.5351.720.
8
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.
Nat Genet. 1997 Aug;16(4):372-4. doi: 10.1038/ng0897-372.
9
Hereditary hypotrichosis simplex of the scalp.
Dermatology. 1995;191(2):139-41. doi: 10.1159/000246532.
10
Tumor necrosis factor ligand superfamily: involvement in the pathology of malignant lymphomas.
Blood. 1995 Jun 15;85(12):3378-404.

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