[Application of long distance-PCR to hemophilia A carrier detection and prenatal diagnosis]

[Application of long distance-PCR to hemophilia A carrier detection and prenatal diagnosis] Research Abstract Details 

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[Application of long distance-PCR to hemophilia A carrier detection and prenatal diagnosis] Abstract Text:

Pei-fang Ding,Qin-you Wang,Wen-sheng Sun,Xue-qin Zhang,Bin Teng,Fa-kui Shen,

OBJECTIVE: To establish an effective laboratory examination system for carrier detection and prenatal diagnosis of haemophilia A (HA). METHODS: Twenty-five carriers of severe HA were directly detected by long-distance PCR (LD-PCR) in search of the factor FVIII (FVIII) gene inversion. Prenatal diagnosis was carried out using pregnant woman's venous blood sample, husband's venous blood sample and fetal navel venous sample at 20-24 weeks of gestation. The plasma coagulation factor VIII activity (FVIII:C) was detected by one-stage method. The concentration of von Willbrand factor (Vwf) was assayed by ELISA. Prenatal diagnosis was finally made by LD-PCR. The results of LD-PCR were proved by DNA sequencing. RESULTS: Eight out of 25 cases were diagnosed as having FVIII geneinversion. Four of these 8 carriers underwent the LD-PCR for prenatal diagnosis, and 2 of them had to terminate pregnancy because their fetuses were diagnosed as having HA. The other two carriers were finally diagnosed to have normal fetuses by combined use of LD-PCR with plasma FVIII:C, vWF in pregnant woman's venous blood, husband's venous blood and fetal navel venous blood, and the one-year follow-up study demonstrated that the babies were normal and living well. CONCLUSION: LD-PCR technique was adopted in this study to detect the factor VIII gene inversion; it could accurately and rapidly diagnose the severe cases of HA and could be used for the HA carriers in need of pregnant diagnosis.

[Application of long distance-PCR to hemophilia A carrier detection and prenatal diagnosis] Publishing Authors By Initials

PF Ding,QY Wang,WS Sun,XQ Zhang,B Teng,FK Shen,

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[Application of long distance-PCR to hemophilia A carrier detection and prenatal diagnosis] Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yix

VOLUME: 21

Page Numbers: 505-7

Journal Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Z

ISSN: 1003-9406

DAY: 13

MONTH: Oct

YEAR: 2004

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LANGUAGE: chi

NlmUniqueID: 9425197

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AFFILIATION: Institute of Immunology, Medicine School of Shandong University, Jinan, Shandong, 250012 P.R. China. pfding2000@163.com

Country: China

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MEDLINETA: Zhonghua Yi Xue Yi Chuan Xue Z

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