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01121 Journal of Nara Medical Association >
Vol.46 No.4 >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10564/945

Title: 日本人における血液凝固第Ⅷ因子遺伝子イントロン13内のVariable Number of Tandem Repeat(VNTR)
Other Titles: THE VARIABLE NUMBER OF TANDEM REPEAT (VNTR) IN INTRON 13 OF THE BLOOD COAGULATION FACTOR Ⅷ GENE IN THE JAPANESE
Authors: 森本, 広之
Keywords: factor Ⅷ gene
hemophilia A
variable number of tandem repeat (VNTR)
genetic marker
Issue Date: 31-Aug-1995
Publisher: 奈良医学会
奈良県立医科大学
Citation: 奈良医学雑誌 Vol.46 No.4 p.308-318
Abstract: Carrier detection and prenatal diagnosis of hemophilia A have been perfor- med accurately by restriction fragment length polymorphisms (RFLPs). However, a single intragenic DNA polymorphism with two (+ and -) alleles can be informative for no more than 50% of women and this approach is time-consuming. The dinucleotide repeat sequence of varying length known as (dC-dA)n ・ (dG-dT)n, hereafter designated (CA)n, within intron 13 of the factor Ⅷ gene was analyzed in Japanese subjects by the polymerase chain reaction (PCR). The investigation of this variable number of tandern repeat (VNTR) in 110 X chromosomes from 70 healthy subjects (30 males and 40 females) revealed five different allelic fragments, i. e. 20 (59.1%), 21 (23.7%), 22 (3.6%), 23 (11.8%) and 25 (1.8%) repeats. Nineteen (47.5%) out of the 40 females analyzed were heterozygous for this VNTR. These findings suggest a strategy for providing a highly informative marker available for factor Ⅷ gene tracking studies in hemophilia A kindreds in a quicker and easier way.
URI: http://hdl.handle.net/10564/945
ISSN: 04695550
13450069
Appears in Collections:Vol.46 No.4

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