血友病A携带者检测与产前诊断的研究进展
被引量：1
摘要
血友病A是最常见的遗传性出血性疾病,由于目前尚无有效的治疗措施,所以携带者的检测及早期产前诊断显得更加重要。直接检测基因突变位点的方法是最理想、最准确和最可靠的诊断方法,然而凝血因子VIII基因突变的异型性和复杂性使得直接法在血友病A的诊断中变得困难,因此作为间接法的连锁分析仍是目前广泛采用的方法。本文拟简要阐述近年来血友病A携带者的基因检测与产前诊断的研究进展。
出处
《国外医学（儿科学分册）》
2003年第1期27-29,共3页
Foreign Medical Sciences（Section of Pediatrics)
参考文献19
-
1Antonarakis SE, Rossiter JP, Young M, et al. Factor Ⅷ gene inversions in severe hemophilia A: Results of an international consortium study[J]. Blood, 1995,86(6):2206-2212.
-
2Kemball-CooK G, Tuddenham EG, Wacey AI. The factor Ⅷ structure and mutation resource site: HAMSTeRS version 4[1]. Nucleic Acid Res, 1998,26(1):216- 219.
-
3Lakich D, Kazazian HH, Antonarakis SE, et al. Inversions disrupting the factor Ⅷ gene are a common cause of severe hemophilia A[J].Nat Genet, 1993,5(3):236- 241.
-
4Choi YM, Hwang D, Cboe J, et al. Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by PCR-based analysis of Bd I/intron 18 and St14 VNTR polymorphisms[J]. J Hum Genet, 2000,45(4):218-223.
-
5Shetty S, Ghosh K, Bhide A, et al. Carrier detection and prenatal diagnosis in families with haemophilia[J]. Natl Med J India, 2001,14(2):81 - 83.
-
6Oldenburg J. Mutation profiling in haemophilia A[J]. Thromb Haemost, 2001,85(4):577-579.
-
7Deutz-Terlouw PP, Losekoot M, Olmer R, et al. Inversions in the factor V' gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families[J]. J Med Genet, 1995,32(4):296 - 300.
-
8Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of inversion mutation in hemophilia A[J]. Blood,1998,92(4): 1458-1459.
-
9Liu Q, Sommer SS. Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content application to the inversion hotspot in the factor Ⅷ gene[J]. Biotechniques, 1998,25(6):1022-1028.
-
10Lin SW, Lin SR, Shen MC. Characterization of genetic defects of hemophilia A patients of Chinese origin[J]. Genomics, 1993, 18(3):496- 504.
同被引文献11
-
1毛江洪.血友病甲研究的现状[J].中国优生与遗传杂志,2006,14(1):6-7. 被引量：7
-
2方怡,王学锋,王鸿利.重型血友病A凝血因子Ⅷ第1号内含子倒位的研究进展[J].国际检验医学杂志,2006,27(3):235-236. 被引量：1
-
3司艳梅,王树玉.产前诊断技术及其进展[J].中国优生与遗传杂志,2006,14(4):9-11. 被引量：14
-
4袁静,丛林.血友病的产前基因诊断[J].中国优生与遗传杂志,2006,14(11):7-8. 被引量：2
-
5Tuddenham EG,Schwaab R,Seehafer J,et al.Haemo-philia A; database of nucleotide substitutions,deletions,insertions and rearrangements of the factor VIII gene[J].second edition.Nucleic Acids Res,1994,22 (17):3511-3533.
-
6Bagnall RD,Waseem N,Green PM,et al.Recurrenti nversion breaking intron l of the factor VIII gene is a frequent cause of severe he mopilia A[J].Blood,2002,99(1):168-174.
-
7Liu Jingzhong,Liu Qiang,Liang Yan,et al.PCR assay for the inversion causing severe Hemophilia A and its application[J].Chin Med J,1999,112(5):419.
-
8Choi YM,Hwang D,Choe J,et al.Carrier detection and prenatal diagnosis of hemophilia A认a Korean population by PCR-based analysis of Bcl 1/intron 18 and St14 VNTR polymorphisms[J].J Hum Genet,2000,45(4):218-223.
-
9Shetty S,et al.Cagier detection and prenatal diagnosis in families with haemophilia[J].Natl Med J India,2001,14(2):81-83.
-
10Stranc LC,Evans JA,Hamerton JL.Choronic villas sampling and amniocentesis for prenatal diagnosis[J].Lancet,1997,349(9053):711-714.
-
1王占华,尹玉琴.万名人群中变态反应患病率调查[J].中华流行病学杂志,1990,11(2):100-102. 被引量：4
-
2王福霞,刘宁,任劼,邵俊彦.头孢曲松钠致过敏反应12例分析[J].中国误诊学杂志,2011,11(1):224-224. 被引量：2
-
3O'Conner GT,朱元珏.COPD发病过程中变态反应和非特异性气道高反应性的作用[J].国外医学（呼吸系统分册）,1990,10(4):190-193.
-
4张平,金哲秀.心电图ST段抬高误诊为急性心肌梗死原因分析[J].中国医疗前沿,2012,7(19):57-58.
-
5张春雷.乙肝病毒携带者Pre-S1抗原与HBeAg、HBV-DNA相关性探讨[J].承德医学院学报,2013,30(3):215-217.
-
6陈绮美,李佩竹,谭守勇,刘健雄,陶曙,张克迅,黎意芬,林茵,宋涛,陈其深.循证护理对提高流动肺结核患者治疗依从性的临床观察[J].当代医学,2012,18(5):113-114. 被引量：15
-
7杨仁池.血友病分子遗传学研究进展[J].国外医学（输血及血液学分册）,1999,22(3):151-155.
-
8赵建平.前s1抗原与两对半在乙型肝炎检测中的意义分析[J].实用心脑肺血管病杂志,2010,18(11):1621-1622. 被引量：1
-
9陈小霞,闵春明,赵华,廖文华,宋方敏.Barrett食管病理分型 组织异型性与环氧合酶2及幽门螺杆菌感染的相关性研究[J].浙江临床医学,2013,15(3):330-332. 被引量：3
-
10台虹,王泳,宋建新,万海英,沙玲,李震宇,卢秀琼,李明,马玉林,张泽智,阮长耿.云南省傣、彝、汉族人FⅧ基因BclⅠ限制性片段长度多态性研究[J].中华血液学杂志,2000,21(4):210-210.
