The human factor IX gene as germline mutagen test: Samples from Mainland China have the putatively endogenous pattern of mutation

Jing Zhong Liu, Xuemin Li, Joni Drost, Erik C. Thorland, Qiang Liu, Tammy Lind, Stacy Roberts, H. Y. Wang, Steve S. Sommer

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Germline mutations are the major source of genetic variation that allows a species to evolve over time but at the cost of Mendelian disease and genetic predisposition to multifactorial diseases. Previous analyses have revealed that the pattern of germline mutations in the factor IX gene (F9) is similar among a variety of ethnically and geographically diverse populations and compatible with the ancient pattern that has shaped the mammalian genome. Here, we compare the pattern of germline mutation in a population of hemophilia B patients from Mainland China (n=66) to that in U.S. Caucasians, Blacks, and Mexican Hispanics and stratify by disease severity and ethnicity. The similar pattern of germline mutation in all ethnic groups studied to date provides additional data compatible With the inference that endogenous processes predominate in germline mutations. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)31-36
Number of pages6
JournalHuman mutation
Volume16
Issue number1
DOIs
StatePublished - 2000

Keywords

  • Caucasian
  • China
  • Endogenous mutagens
  • Exogenous mutagens
  • F9
  • Factor IX
  • Hemophilia B
  • Pattern of mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'The human factor IX gene as germline mutagen test: Samples from Mainland China have the putatively endogenous pattern of mutation'. Together they form a unique fingerprint.

Cite this