지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 132 - 137 (6page)
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Background: Atrichia with papular lesions (APL) is a rare inherited disease characterized by early onset of total hair loss, followed by papular lesions over the extensor areas of the body. Recently, mutations in the human hairless (HR)gene have been implicated in its pathogenesis. The identification of mutations in the HR gene is important for differentiating between APL and alopecia universalis (AU).
Objective: We compared the HR genes of patients with presumed AU who showed minimal or no response to treatment with the HR genes of healthy controls. Methods:The subjects were 11 patients with presumed AU who had not responded to treatments. Fifty healthy people were included as controls for molecular analysis. To screen for mutations, polymerase chain reaction was performed.
Results: DNA analysis identified a novel heterozygous G-to-A transition at nucleotide position 191 in exon 5. The mutation was not found in the controls, other AU patients, or any unaffected family members except for the patients’mother and maternal grandfather, who were heterozygous HR gene carriers. Conclusion: Our study identifies a novel missense mutation in exon 5 of the HR gene in a Korean APL patient previously diagnosed as AU.(Ann Dermatol 23(2)132∼137, 2011)
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참고문헌 (24)
참고문헌 신청
Ahmad W / 1998 / Alopecia universalis associated with a mutation in the human hairless gene / Science 279 : 720 ~ 724
Ahmad W / 1999 / Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family / Genomic
Ashoor GG / 2005 / Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions / J Dermatol Sci 40 : 29 ~ 33
Betz RC / 2007 / Identification of mutations in the human hairless gene in two new families with congenital atrichia / Arch Dermatol Res 299 : 157 ~ 161
Cichon S / 1998 / Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia
Ahmad W / 1999 / Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family / Genomic
Ashoor GG / 2005 / Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions / J Dermatol Sci 40 : 29 ~ 33
Betz RC / 2007 / Identification of mutations in the human hairless gene in two new families with congenital atrichia / Arch Dermatol Res 299 : 157 ~ 161
Cichon S / 1998 / Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia
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