title: [Analysis of X ba I polymorphism of FVIII gene and its application on prenatal diagnosis for hemophilia A].
abstract: OBJECTIVE
  To establish the linkage methods of X ba I polymorphisms specific for FVIII gene intron 22, and to find a rapid and simple system for haemophilia A (HA) carrier detection and prenatal diagnosis.
  
  
  METHODS
  A long PCR to amplify FVIII gene intron 22 followed by X ba I digestion was used to assay the gene rate and heterozygosity rate of 206 unrelated people. Detection of intron 22 inversion by long distance PCR (LD-PCR) and XbaI, BclI, Hind III, DXS52, STR polymorphism within intron 13 and 22 by hereditary linkage analysis were assays in 20 HA pedigrees.
  
  
  RESULTS
  The gene rate and polymorphism information contents of 206 people were 0.5475 and 0.4955 respectively, 7 of 20 HA families were diagnosed as intron 22 inversion, 6 of 13 non-inversion HA families were diagnosed by X ba I linkage analysis, 8 of 13 non-inversion HA families were diagnosed by two or more linkage analysis.
  
  
  CONCLUSIONS
  The improved X ba I linkage analysis is a specific and useful molecular diagnosis marker. LD-PCR and five-linkage analysis can be used in prenatal HA gene diagnosis.
authors.affiliation: Basic Medical Research Center of Capital Medical University Affiliated Chaoyang Hospital, Beijing 100020, China.
authors.forename: Zhan-yong
authors.initials: ZY
authors.lastname: Wang
authors.forename: Yan
authors.initials: Y
authors.lastname: Liang
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Bai
authors.initials: B
authors.lastname: Xiao
authors.forename: Jing-zhong
authors.initials: JZ
authors.lastname: Liu
mesh_terms: D005169:Factor VIII / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007438:Introns; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005169:Factor VIII