Abstract
We identified two novel dinucleotide polymorphisms in intron A at nucleotide 192 (FIX 192) and the 5' flanking region at nucleotide -793 (FIX-793) of the factor IX gene, which are present in normal Japanese. The Hha I restriction fragment length polymorphism (FIX-HhaI) located 8 kb 3' to the factor IX gene was also found to be an efficient marker for detecting carriers in a Japanese family with hemophilia B. Each of these polymorphisms was able to be rapidly ascertained by the polymerase chain reaction (PCR) technique. In 22 Japanese families with hemophilia B, 18 families (81.8%) were heterozygous for at least one of these polymorphisms, whereas 11 (50%) were informative for the extragenic DXS99/Sac I RFLP which was previously reported as a useful gene marker for Japanese hemophilia B. Using all 4 polymorphisms together, the informative rate improved to 86.4%. Carrier detection can be achieved effectively and rapidly in Japanese with these polymorphisms.
| Original language | English |
|---|---|
| Pages (from-to) | 1009-1014 |
| Number of pages | 6 |
| Journal | Thrombosis and Haemostasis |
| Volume | 74 |
| Issue number | 4 |
| Publication status | Published - 1995 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Hematology
Cite this
Diagnosis of hemophilia B carriers using two novel dinucleotide polymorphisms and Hha I RFLP of the factor IX gene in Japanese subjects. / Toyozumi, H.; Kojima, T.; Matsushita, T.; Hamaguchi, M.; Tanimoto, M.; Saito, H.
In: Thrombosis and Haemostasis, Vol. 74, No. 4, 1995, p. 1009-1014.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Diagnosis of hemophilia B carriers using two novel dinucleotide polymorphisms and Hha I RFLP of the factor IX gene in Japanese subjects
AU - Toyozumi, H.
AU - Kojima, T.
AU - Matsushita, T.
AU - Hamaguchi, M.
AU - Tanimoto, M.
AU - Saito, H.
PY - 1995
Y1 - 1995
N2 - We identified two novel dinucleotide polymorphisms in intron A at nucleotide 192 (FIX 192) and the 5' flanking region at nucleotide -793 (FIX-793) of the factor IX gene, which are present in normal Japanese. The Hha I restriction fragment length polymorphism (FIX-HhaI) located 8 kb 3' to the factor IX gene was also found to be an efficient marker for detecting carriers in a Japanese family with hemophilia B. Each of these polymorphisms was able to be rapidly ascertained by the polymerase chain reaction (PCR) technique. In 22 Japanese families with hemophilia B, 18 families (81.8%) were heterozygous for at least one of these polymorphisms, whereas 11 (50%) were informative for the extragenic DXS99/Sac I RFLP which was previously reported as a useful gene marker for Japanese hemophilia B. Using all 4 polymorphisms together, the informative rate improved to 86.4%. Carrier detection can be achieved effectively and rapidly in Japanese with these polymorphisms.
AB - We identified two novel dinucleotide polymorphisms in intron A at nucleotide 192 (FIX 192) and the 5' flanking region at nucleotide -793 (FIX-793) of the factor IX gene, which are present in normal Japanese. The Hha I restriction fragment length polymorphism (FIX-HhaI) located 8 kb 3' to the factor IX gene was also found to be an efficient marker for detecting carriers in a Japanese family with hemophilia B. Each of these polymorphisms was able to be rapidly ascertained by the polymerase chain reaction (PCR) technique. In 22 Japanese families with hemophilia B, 18 families (81.8%) were heterozygous for at least one of these polymorphisms, whereas 11 (50%) were informative for the extragenic DXS99/Sac I RFLP which was previously reported as a useful gene marker for Japanese hemophilia B. Using all 4 polymorphisms together, the informative rate improved to 86.4%. Carrier detection can be achieved effectively and rapidly in Japanese with these polymorphisms.
UR - http://www.scopus.com/inward/record.url?scp=0028810202&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028810202&partnerID=8YFLogxK
M3 - Article
C2 - 8560402
AN - SCOPUS:0028810202
VL - 74
SP - 1009
EP - 1014
JO - Thrombosis and Haemostasis
JF - Thrombosis and Haemostasis
SN - 0340-6245
IS - 4
ER -