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单基因遗传病植入前基因分析的研究进展

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摘要 开展并完善单基因遗传病植入前基因分析对杜绝患儿出生、减少流产带来的伦理学争议和孕妇所面临的身心创伤都具有十分重要的意义。本文就植入前单细胞基因分析技术和策略作一综述。
作者 方怡 王学锋 王鸿利
机构地区 上海第二医科大学附属瑞金医院血液学研究所
出处 《国外医学（输血及血液学分册）》 2005年第1期15-17,共3页 Foreign Medical Sciences(Section of Blood Transfusion and Heanatology)
关键词 植入前 单基因遗传病 基因分析 研究进展 创伤 孕妇 患儿 单细胞 出生
分类号 R715 [医药卫生—妇产科学]
  • 相关文献

参考文献20

  • 1International working group on preimplantation genetic. Tenth anniversary of preimplantation genetic diagnosis. J Assist Reprod Genet ,2001,18(2) :64-70.
  • 2ESHRE PGD consortium steering committee. ESHRE preimplantation genetic diagnosis consortium: data collection Ⅲ (May 2001).Hum Reprod, 2002, 17(1):233-246.
  • 3焦泽旭,庄广伦,周灿权,舒益民,梁晓燕,李洁,张敏芳,邓明芬.对β-地中海贫血携带者进行胚胎植入前遗传学诊断[J].中华医学杂志,2003,83(4):298-301. 被引量：19
  • 4Wells D, Sherlock JK. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn, 1998, 18(13):1389-1401.
  • 5Dreesen JC, Jacobs LJ, Bras M, et al. Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol Hum Reprod, 2000, 6(5):391-396.
  • 6Cserhalmi-Friedman PB, Tang Y, Adler A, et al.Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Exp Dermatol, 2000, 9(4) :290-297.
  • 7Ao A, Wells D, Handyside AH, et al. Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coll.J Assist Reprod Genet, 1998, 15(3):140-144.
  • 8Moutou C, Gardes N, Rongieres C, et al. Allele-specific amplification for preimplantation genetic diagnosis(PGD) of spinal muscular atrophy. Prenat Diagn, 2001, 21(6) :498-503.
  • 9Fiorentino F, Magli MC, Podini D, et al. The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol Hum Reprod, 2003, 9(7):399-410.
  • 10Salvado CS, Trounson AO, Cram DS. Towards preimplantation diagnosis of cystic fibrosis using microarrays. Reprod Biomed Online, 2004, 8(1):107-114.

二级参考文献15

  • 1钱新华,徐湘民,程少杰,刘忠英,朱卫国.用反向点杂交法对广东地区35例重型β地中海贫血患儿及双亲的基因突变研究[J].中华医学遗传学杂志,1996,13(5):262-265. 被引量：22
  • 2李蓉,庄广伦,张敏芳.卵母细胞单精子显微注射治疗男性因素及不明原因不育[J].中华妇产科杂志,1997,32(4):211-213. 被引量：48
  • 3El-Ha Shamite N, Well SD, Delahnty JDA. Preimplantation genetic diagnosis of β-thalas saemia. Lancet, 1996, 348: 620-621.
  • 4rettou C, Plamer G, Knavakis E, et al. A widely applicable strategy for single cell genotyping of β-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis. Prenat Diagn, 1999,19:1209-1216.
  • 5Kuliev A, Rechitsky S, Verlin sky O,et al.Preimplantation diagnosis of β-thalas saemias. J Assist Reprod Genet, 1998, 15: 219-225.
  • 6Xu KP, Tang YX, Grifo JA, et al. Primer extension preamplification for detection of multiple genetic loci from single human blastomeres. Hum Reprod, 1993, 8: 2206-2210.
  • 7Lewis CM, Pinel T, Whittaker JC, et al. Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum Reprod,2001,16: 43-50.
  • 8Wells D, Sherlock JK. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification . Prenat Diagn,1998, 18:1389-1401.
  • 9Findlay I, Quirke P, Hall J, et al. Fluorescent PCR: a new technique for PGD of sex and single-gene defects. J Assist Reprod Genet, 1996, 13,96-103.
  • 10Pickering SJ, McConnell JM, John son MH, et al. Use of a polymorphic dinucleotide repeat sequence to detect non-blastomeric contaminantion of the polymerase chain reaction in biopsy samples for preimplantation diagnosis. Hum Reprod, 1994,9: 1539-1545.

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国外医学（输血及血液学分册）
2005年 第1期

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