Intragenic dinucleotide repeats in factor VIII gene for the diagnosis of haemophilia A

Yip, B.; Chan, Vivian; Chan, T. K.

doi:10.1111/j.1365-2141.1994.tb05134.x

Cited by 12 publications

(13 citation statements)

References 10 publications

(9 reference statements)

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“…In the present report, to select compatible pairs of primers with similar annealing temperatures in multi‐PCR, primers for this repeat was different from primers commonly used before [9]. As a result, six different alleles were observed in Chinese and the observed and expected HRs were 52.94% and 47.61%, which was presumably consistent with the previously published study [16].…”

Section: Discussionsupporting

confidence: 86%

“…It was first reported by Lalloz et al [9] that this STR locus had eight different alleles and 91% of females from different populations were heterozygous for this repeat. The HR of this marker varies from 34% to 83% in different ethnic groups [5,10–17]. The lowest HR of 34% was reported by Aseev et al [10] in Slavs, while the highest HR 83.08% was described in Brazilians by Soares et al [11].…”

Section: Discussionmentioning

confidence: 99%

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A rapid multifluorescent polymerase chain reaction for genetic counselling in Chinese haemophilia A families

et al. 2005

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Linkage analysis is a widely used strategy for genetic counselling in haemophilia A (HA) families. We attempted to develop more informative markers closely linked to factor VIII (FVIII) gene and establish a rapid multifluorescent polymerase chain reaction (PCR) method with these markers. Five extragenic (DXS15, DXS9901, G6PD, DXS1073 and DXS1108) and one intragenic (F8Civs13) markers were examined in 118 healthy individuals and 12 HA families which had been diagnosed before. Five extragenic markers were within an interval of about 1.5 Mb to FVIII gene and located on each side of the gene. The expected heterozygote rate (HR) of DXS15, DXS9901, G6PD, DXS1073, DXS1108 and F8Civs13 were 74.97%, 79.77%, 56.06%, 59.92%, 39.97% and 47.61%, while the observed HR were 88.24%, 82.35%, 21.57%, 62.75%, 35.29% and 52.94%. When six polymorphic markers were combined together, all the studied females were informative in at least one of these markers and 29.41% of them were detected informative in three markers with the highest frequency. The diagnostic rates of DXS15, DXS9901, G6PD, DXS1073, DXS1108 and F8Civs13 in 12 haemophilia families were 75.00%, 91.67%, 41.67%, 75.00%, 33.33% and 66.67% respectively. All the genetic diagnosis was consistent with the result we analysed before and no recombination was observed. Family 1 was given as an example in this study and was found to be informative in three polymorphic markers DXS15, DXS9901 and DXS1073. The patient's sister was detected the same allele as the proband, but her male fetus did not inherit the affected allele from her, which was consistent with the result of sequencing. It was demonstrated that the multifluorescent PCR method established in this study was convenient and efficient and can be applied to carrier detection and prenatal diagnosis in HA families.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

A rapid multifluorescent polymerase chain reaction for genetic counselling in Chinese haemophilia A families

et al. 2005

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“…[38] and are also different from those described in other populations. Larger allele sizes were described in the Chinese population, with the commonest repeat number being 25 and 26 for intron 13 and intron 22 repeats, respectively [39]. Jarjanazi et al.…”

Section: Discussionmentioning

confidence: 99%

Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis

2001

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In families afflicted with haemophilia A, genetic counselling is often requested. Inversion mutations and polymorphic sites of the FVIII gene have been examined in a Brazilian population, with the aim of developing a strategy that would be accurate and informative for carrier analysis and prenatal diagnosis in Brazil. Patients with haemophilia A and families were studied. Inversion mutations in the FVIII gene were detected in 39.4% of severely affected patients, 85% of them being of distal type. No inversions were observed in patients with mild or moderate forms of the disease. Two bi-allelic polymorphisms were studied. Intron 18 SSCP and intron 19 RFLP analyses indicated the presence of a restriction site in 39.5% and 42.9% of haemophilics, respectively. Two multiallelic microsatellite polymorphisms in introns 13 and 22 were also studied; eight different alleles were detected in each system with a heterozygosity rate of 83.08% and 78.77%, respectively. When all four intragenic loci were examined in linkage analysis, the cumulative reliability was 100%. In conclusion, inversion mutation analysis should be the first-line test for Brazilian patients with severe haemophilia A. In cases of severe haemophilia A where no inversion could be detected or in mild or moderate haemophilia A, the use of all four polymorphisms is very informative for linkage analysis and should be used for carrier detection and genetic counselling in the Brazilian population.

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“…Their frequencies are shown in Table II. (CA) 21 and (CA) 22 were the most frequent alleles (16% and 28.6%, respectively). The EH was 83%, and the OH was 41.3%; the high 2 value obtained was probably due to a deficiency of heterozygotes in our population (Table II).…”

Section: Resultsmentioning

confidence: 99%

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2004

American J Hematol

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Variable nucleotide tandem repeats (VNTR) Int13, Int22, and St14 were analyzed to determine polymorphic distribution in normal individuals from Mexico's central region and their efficacy in detecting hemophilia A carriers. Polymerase chain reaction (PCR) was carried out on 166 X chromosomes from unrelated Mexicans, and the same method was applied to detect carriers in hemophilia A families. Screening revealed the existence of at least eight different alleles for Int13, 4 alleles for Int22, and 10 alleles for St14. Their heterozygosity rates were 41.3%, 52.6%, and 83%, respectively. Compared to Caucasians, the Mexican population showed a markedly low heterozygosity rate for the Int13 marker. However, Int22 showed a heterozygosity that was similar to Turkish and Chinese populations. The St14 marker was the most informative in carrier diagnosis, and a new 680-bp allele not previously reported was detected. Carrier diagnosis was performed in 39 women from eight different hemophilia A families. Fifteen (38%) females were not carriers, 16 (41%) females were carriers, and 8 (21%) were homozygous. Determination of polymorphisms in VNTR markers revealed that St14 was the most useful for hemophilia A carrier detection in Mexico. Am.

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Intragenic dinucleotide repeats in factor VIII gene for the diagnosis of haemophilia A

Cited by 12 publications

References 10 publications

A rapid multifluorescent polymerase chain reaction for genetic counselling in Chinese haemophilia A families

A rapid multifluorescent polymerase chain reaction for genetic counselling in Chinese haemophilia A families

Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis

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