title: Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?
abstract: OBJECTIVE
  Three Chinese patients with head and neck paragangliomas have been reported to carry the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene. In addition, in our hospital, two further patients were identified who have the same mutation. It is unclear whether the c.3G>C mutation in Chinese patients is a recurrent mutation or if it is due to a founder effect. We conducted haplotype analysis on these patients to answer this question.
  
  
  METHODS
  Individual case-control study.
  
  
  METHODS
  Germ-line mutations were confirmed in the patients and their families examined in this study using direct sequencing. We also constructed and analyzed haplotypes in four Chinese families. Genotype frequencies were compared to the control group.
  
  
  RESULTS
  Three of four families shared the same haplotype, which rarely occurred in the control group. The last family shared a very short area on the physical map with the other three families.
  
  
  CONCLUSIONS
  There is a founder effect in Chinese head and neck paraganglioma patients carrying the SDHD c.3G>C mutation.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Peking Union Medical College Hospital, Beijing, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Zha
authors.forename: Xing-ming
authors.initials: XM
authors.lastname: Chen
authors.forename: Ching-wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Soo-chin
authors.initials: SC
authors.lastname: Lee
authors.forename: Sui-fan
authors.initials: SF
authors.lastname: Tong
authors.forename: Zhi-qiang
authors.initials: ZQ
authors.lastname: Gao
mesh_terms: D000328:Adult; D002681:China; D005260:Female; D018703:Founder Effect; D005828:Genetics, Population; D018095:Germ-Line Mutation; D006239:Haplotypes; D006258:Head and Neck Neoplasms / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010235:Paraganglioma / Q000235:genetics*; D017354:Point Mutation; D013385:Succinate Dehydrogenase / Q000235:genetics*
chemical_list: C491545:SDHD protein, human; D013385:Succinate Dehydrogenase