title: DNA analysis of haemophilia A families from southern France. Experience of a hospital laboratory.
abstract: A sample of 101 individuals from 19 unrelated families from Southern France affected with haemophilia A was studied in our laboratory from 1990 to 1992. The aim of the analysis was to define the carrier status of women related to a haemophiliac, or to find an informative DNA marker for further prenatal diagnosis in obligate carriers. Three intragenic (BclT/intron 18, XbaI/intron 22, AlwNI/intron x7) and two extragenic polymorphisms (TaqI/St14, BglII/DX13) were used for this study. The tested population exhibited some original characteristics, including a lower rate of heterozygosity for the FVIII BclI polymorphism and a number of specificities for the St14 RFLP. We also compared the different methodologies available for each RFLP in a routine diagnostic service, and determined a strategy for linkage analysis in our population.
authors.affiliation: Laboratoire de Biochimie génétique et INSERM U249, CNRS UPR9008, Montpellier, France.
authors.forename: P
authors.initials: P
authors.lastname: Aguilar-Martinez
authors.forename: N
authors.initials: N
authors.lastname: Fabre
authors.forename: R
authors.initials: R
authors.lastname: Navarro
authors.forename: J F
authors.initials: JF
authors.lastname: Schved
authors.forename: J C
authors.initials: JC
authors.lastname: Gris
authors.forename: M C
authors.initials: MC
authors.lastname: Romey
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D000328:Adult; D000483:Alleles; D015342:DNA Probes; D005169:Factor VIII / Q000235:genetics; D005260:Female; D005602:France; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005819:Genetic Markers / Q000235:genetics*; D006239:Haplotypes; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D005169:Factor VIII