Genetic Screening for Hemophilia A (Classic Hemophilia) with a Polymorphic DNA Probe

Oberlé, I.; Camerino, Giovanna; Heilig, Roland; Grunebaum, Lélia; Cazenave, Jean‐Pierre; Crapanzano, Calogero; Mannucci, Pier Mannuccio; Mandel, Jean‐Louis

doi:10.1056/nejm198503143121103

Cited by 142 publications

(47 citation statements)

References 23 publications

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“…The following polymorphic markers were used to determine the parental origin of the factor VIH gene inversion: BcR from intron 18 (23), (CA) n microsatellite repeat in intron 13 (24), (CA) n microsatellite repeat in intron 22 (25), Xbal polymorphic site in intron 22 (26), Bgia site of locus DXS15 (27), and the VNTR polymorphisms at loci DXS52 detected by Taql (28). Information concerning the oligonucleoode primers or the hybridization probes for the detection of these polymorphisms can be found in the Genome Data Base.…”

Section: Polymorphic Markersmentioning

confidence: 99%

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

et al. 1994

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The factor VIII gene, which Is defective In hemophilia A, Is located In the last megabase of the long arm of the X chromosome. Inversions due to intrachromosomal homologous recombination between mispaired copies of gene A located within intron 22 of the gene and about 500 kb telomerlc to it account for nearly half of all cases of severe hemophilia A. We hypothesized that pairing of Xq with its homolog inhibits the Inversion process, and that, therefore, the event originates predominantly in male germ cells. In all 20 informative cases In which the inversion originated in a maternal grandparent, DNA polymorphism analysis determined that it occurred in the male germline. In addition, all but one of 50 mothers of sporadic cases due to an inversion were carriers. Thus, these data support the hypothesis and Indicate that factor VIII gene inversions leading to severe hemophilia A occur almost exclusively In male germ cells.

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Section: Polymorphic Markersmentioning

confidence: 99%

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

et al. 1994

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“…Some RFLP markers which could incorporate with the loci corresponding to genetic diseases have been used for researches on sex-linked recessive diseases such as Duchenne muscular dystrophy and fragile X chromosome syndrome. Oberle et al (1985a) reported a new polymorphic probe named ST 14 that has been mapped to the Xq26-28 region. The relative order of the genetic marker loci in X27-qter region is most likely "cen-... 52A--FIX--ST14,DX13" (Drayna et al, 1984) or "cen-...FIX--FVIII--DX13,ST14--Xqter" (Tantrabahi et al, 1986).…”

Section: Discussionmentioning

confidence: 99%

“…have already been observed (Oberle et al, 1985a). The ST 14-1 probe (3.0 kb EcoRI fragment) is one of the ST 14 fragments which reveals at least 8 allelic fragments ranging from 6.6 kb to 3.4 kb (Oberle et al, 1985b).…”

Section: Subjectsmentioning

confidence: 95%

“…The complementary DNA (cDNA) structure for human factor VIII has been clarified (Gitschier et al, 1984) and several intra-and extragenic factor VIII DNA probes have been developed for carrier detection and prenatal diagnosis (Toole etal., 1984;Gitschier et al, 1985aGitschier et al, , 1985bAntonarakis et al, 1985aAntonarakis et al, , 1985bWion et al, 1986;Janco et al, 1986;Oberle et al, 1985a;Harper et al, 1984;Tonnesen et al, 1984;Winter et al, 1985).…”

Section: Introductionmentioning

confidence: 99%

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Carrier detection in Japanese haemophilia a families using factor VIII gene probe (F8A) and the gene-linked ST 14-1 probe

et al. 1987

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SummaryCarriers of haemophilia A were detected in 20 Japanese families with using the factor VIII gene probe (F8A) and the gene-linked ST 14-1 probe. Polymorphism by the use of the BclI and FSA probe detected the smaller allele (0.9 kb) in 86~ and the larger allele (1.2 kb) in 14~ of the 65 normal X chromosomes. The frequency of BclI polymorphism was 30~ in 30 normal females. In six out of 20 haemophilia A families, the haemophilia gene was identified by Bcll allele polymorphism. The use of TaqI and the ST 14-1 probe detected 11 carriers in 20 haemophilia A families. In 14 families (70~o), either the BclI polymorphism in the factor VIII locus or TaqI polymorphisms in the ST 14 locus was useful for carrier detection.

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“…Although methods for the direct detection of pathogenic mutations such as factor VIII intron 22 gene inversions have been developed recently (Lakich et al 1993;Pieneman et al 1995), indirect gene analysis using DNA polymorphisms still plays an important role in the carrier detection and prenatal diagnosis of hemophilia A. Many polymorphic markers within or near the factor VIII gene have been reported as being useful for the carrier detection and prenatal diagnosis of hemophilia A: BclI/intron 18 polymorphism (Gitschier et al 1985), XbaI/ intron 22 polymorphism (Wion et al 1986), intron 13/22 dinucleotide repeat polymorphisms (Lalloz et al 1991), and extragenic St14 variable number of tandem repeats (VNTR) located at 4 cM from the factor VIII gene (Oberle et al 1985;Richards et al 1991). The polymerase chain reaction (PCR) has made DNA polymorphism analysis simpler and more rapid for clinical applications than Southern blot analysis, and it can be applied in the analysis of most polymorphisms linked to the factor VIII gene.…”

Section: Introductionmentioning

confidence: 99%

Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by PCR-based analysis of the BclI/intron 18 and St14 VNTR polymorphisms

Choi

Hwang²,

Choe

et al. 2000

J Hum Genet

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We have undertaken this study to identify the usefulness of polymerase chain reaction (PCR)-based analysis of DNA polymorphisms in the BclI/intron 18 and St14 variable number of tandem repeats (VNTR) loci for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. We have analyzed these polymorphisms in members of 105 unrelated Korean families with severe hemophilia A. The observed heterozygosity rates for the BclI/intron 18 and St14 VNTR polymorphisms were 21.0% and 71.3%, respectively. The BclI/intron 18 polymorphism was less informative in Koreans when compared with Caucasians and Japanese. The allele frequencies for St14 VNTR in Koreans were different from those in Caucasians. Compared with Caucasians, there was a markedly higher occurrence of low molecular weight alleles in Koreans. The observed heterozygosity for the St14 VNTR polymorphism in combination with the BclI/intron 18 polymorphism was 81.9%. These two polymorphisms were applied to determine the carrier status of 107 women from 65 unrelated families, and to assess fetal status in 37 pregnancies. So far, we have experienced one case of misdiagnosis of carriership. Our study demonstrated that the PCR-based analysis of the BclI/intron 18 and St14 VNTR polymorphisms was useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.

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Genetic Screening for Hemophilia A (Classic Hemophilia) with a Polymorphic DNA Probe

Cited by 142 publications

References 23 publications

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

Carrier detection in Japanese haemophilia a families using factor VIII gene probe (F8A) and the gene-linked ST 14-1 probe

Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by PCR-based analysis of the BclI/intron 18 and St14 VNTR polymorphisms

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