Investigation of hHB genes in a predigree of congenital monilethrix

刘安; 肖生祥; 谭升顺; 徐彦春; 焦婷; 刘艳; 潘敏

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Investigation of hHB genes in a predigree of congenital monilethrix

Original articles_Short communications | Updated：2026-03-12

- Investigation of hHB genes in a predigree of congenital monilethrix
- Investigation of hHB genes in a predigree of congenital monilethrix
- 解放军医学杂志（英文版） 2007年第2期页码：125-128
- Affiliations：
  
  1. Beijing Clinical Center of Diagnosis and Therapy for STD and AIDS Beijing Youan Hospital Capital University of Medical Science
  2. Department of Dermatology the Second Hospital
  3. Xi’an Jiaotong University
  4. Department of Dermatology The Hospital of PLA,473
  5. ,Lanzhou,730000
- Author bio：
- Funds：
- DOI：
  中图分类号： R195
- 纸质出版：2007
- Accepted：
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Investigation of hHB genes in a predigree of congenital monilethrix[J]. 解放军医学杂志（英文版）, 2007,(2):125-128.

[1]刘安,肖生祥,谭升顺,徐彦春,焦婷,刘艳,潘敏.Investigation of hHB genes in a predigree of congenital monilethrix[J].Journal of Medical Colleges of PLA,2007(02):125-128.
Investigation of hHB genes in a predigree of congenital monilethrix[J]. 解放军医学杂志（英文版）, 2007,(2):125-128. DOI：

[1]刘安,肖生祥,谭升顺,徐彦春,焦婷,刘艳,潘敏.Investigation of hHB genes in a predigree of congenital monilethrix[J].Journal of Medical Colleges of PLA,2007(02):125-128. DOI：

摘要

Abstract

<正>Objective: To investigate the gene polymorphism in a pedigree of congenital monilethrix. Methods: Genomic DNA of affected members

the normal members of the pedigree and 50 unrelated normal members who came from different regions were extracted with a whole blood genomic DNA extraction kit and used as a template for the polymerase chain reaction （PCR）-mediated amplification of hHB1 and hHB6 genes. Results: In the pedigree

DNA analysis of patients and normal persons revealed C（447th） in exonl of hHB1 gene and the 52th codon was CCA encoding arginine. But it was a heteropeak of G or C in 50 unrelated normal members

which encodes glycine or arginine. It showed that this change was a single nucleotide polymorphisms （SNP）. Conclusion:A genetic heterogeneity of monilethrix exists in Chinese population. SNP which can result in the change of amino acid sequence is found in a pedigree of congenital monilethrix

and a genetic heterogeneity of monilethrix existed in Chinese population.

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