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Author Xu, Chao ♦ Zhang, Li ♦ Chen, Nan ♦ Su, Bin ♦ Pan, Cun-Ming ♦ Li, Jun-Yan ♦ Zhang, Guo-Wei ♦ Liu, Zhi ♦ Sheng, Yan ♦ Song, Huai-Dong
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Wiley
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Natural sciences & mathematics ♦ Life sciences; biology ♦ Physiology & related subjects ♦ Biochemistry ♦ Genetics and evolution ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Human anatomy, cytology, histology ♦ Human physiology ♦ Diseases ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Cells ♦ Anatomy ♦ Eukaryota ♦ Organisms ♦ Skin and Connective Tissue Diseases ♦ Diseases ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Chemical Phenomena ♦ Genetic Phenomena ♦ Biological Sciences ♦ Persons ♦ Persons
Subject Keyword Discipline Pathology ♦ Discipline Dermatology ♦ Chromosomes, Human, Pair 13 ♦ Genetics ♦ Hypotrichosis ♦ Adult ♦ Asian Continental Ancestry Group ♦ Child, Preschool ♦ Chromosome Mapping ♦ Dna Mutational Analysis ♦ Female ♦ Genetic Linkage ♦ Haplotypes ♦ Humans ♦ Male ♦ Microsatellite Repeats ♦ Pedigree ♦ Journal Article ♦ Research Support, Non-u.s. Gov't
Abstract BACKGROUND: Hereditary hypotrichosis simplex (MIM 146520, HHS) is a rare form of nonsyndromic alopecia. The locus for autosomal dominant HHS was mapped to 18p11.32-p11.23 and 6p21.3, respectively, suggestive of genetic heterogeneity. AIM: To identify the disease-causing gene for a four-generation Chinese family with dominant transmission of a form of HHS. The work was carried out at State Key Laboratory of Medical Genomics. METHODS: Genome-wide screening was carried out in a Chinese family with HHS using microsatellite markers, and linkage analysis was performed using the MLINK program. RESULTS: The highest two-point logarithm of the odds (LOD) score was obtained with the microsatellite marker D13S217 (LOD score of 4.041 at theta = 0.00). After fine mapping and haplotype analysis, we defined a critical region of about 9.57 cM flanked by markers D13S1243 and D13S1299. The disease-causing gene was mapped to 13q12.12 approximately 12.3 in this family. CONCLUSIONS: A novel locus for HHS maps to chromosome 13q12.12 approximately 12.3 in a Chinese family.
Description Country affiliation: China
Author Affiliation: Xu C ( State Key Laboratory of Medical Genomics, Center of Molecular Medicine, Ruijin Hospital, An Affiliate of Shanghai JiaoTong University Medical School, Shanghai, China.)
ISSN 03036987
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article
Publisher Date 2010-07-01
Publisher Place United States
e-ISSN 16000560
Journal Journal of Cutaneous Pathology
Volume Number 37
Issue Number 7

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Source: WHO-Global Index Medicus