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Literature DB >> 3008893

Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status.

C W Hay, K A Robertson, S L Yong, A R Thompson, G H Growe, R T MacGillivray.

Abstract

A BamHI polymorphism has been identified in the human factor IX gene. This polymorphism, which occurs in approximately 6% of X chromosomes, has been used to determine the carrier status of a female in a family with a history of hemophilia B. This family was uninformative for the previously reported TaqI and Xmnl polymorphisms in the factor IX gene.

Entities: Disease Species

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Year: 1986 PMID： 3008893

Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113

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Cited

20 in total

1. MspI polymorphic site within the factor IX gene. Localization of the site and an improved method for detection.

Authors: D L Freedenberg; S H Chen; K Kurachi; C R Scott
Journal: Hum Genet Date: 1987-07 Impact factor: 4.132

2. Diagnosis of haemophilia B using the polymerase chain reaction.

Authors: J Reiss; U Neufeldt; K Wieland; B Zoll
Journal: Blut Date: 1990-01

3. The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians.

Authors: M Zhang; S H Chen; C R Scott; A R Thompson
Journal: Hum Genet Date: 1989-06 Impact factor: 4.132

4. Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

Authors: D D Koeberl; C D Bottema; J M Buerstedde; S S Sommer
Journal: Am J Hum Genet Date: 1989-09 Impact factor: 11.025

Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status.

1. MspI polymorphic site within the factor IX gene. Localization of the site and an improved method for detection.

2. Diagnosis of haemophilia B using the polymerase chain reaction.

3. The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians.

4. Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

Review 5. Prenatal diagnosis of common genetic disorders.

6. A DNA marker closely linked to the factor IX (haemophilia B) gene.

7. Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups.

8. The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.

Review 9. Haemophilia: strategies for carrier detection and prenatal diagnosis.

Review 10. Diagnosis of genetic disease using recombinant DNA. Supplement.