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中山市户籍人群中α-地中海贫血的分子流行病学调查 被引量:18

Molecular epidemiology survey of α-thalassemia in Zhongshan city
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摘要 【目的】分析中山市户籍人群中α-地中海贫血的分子流行病学特征,为有效预防提供参考依据。【方法】以分层抽样采集2500例中山市户籍新生儿脐血,用HPCE测定HbBart's作为诊断α-地贫的阳性参考指标,对阳性样品用gap-PCR和RDB法进行α-地贫基因分型,并在所有被检样品中进行两种常见静止型α-地贫基因(-α3.7/和-α4.2/)的分子筛查。对未知突变进行PCR产物直接测序法、MLPA及家系表型分析等。【结果】在2500例脐带血样本中,经基因检测,255例被确诊为α-地贫基因型(含258个突变等位基因)。检出HbBart's阳性样品183例,有83例α3.7/αα、α4.2/αα和2例-SEA/αα基因携带者检出自HbBart's阴性样品中。中山市户籍人群中α-地贫基因携带率为10.32%(258/2500);4种已知α-地贫基因的构成比依次为54.65%(-SEA/)、33.33%(α3.7/)、11.24%(α4.2/)和0.78%(αCSα/)。【结论】中山市户籍人群中α-地贫基因携带率高,检出4种基因突变类型(-SEA/、-α3.7/、-α4.2/和αCSα/),以-SEA/为主,开展α-地贫的预防工作具有重要意义。 [Objective] To investigate the carrier rate and mutation spectrum of α-thalassemias in population at Zhongshan city. and provide evidences for effective prevention. [Methods] Stratified sampling was used. 2 500 umbilical cord blood samples from neonates were collected in Zhongshan city for molecular epidemiology survey of α-thalassemia. The high performance capillary electrophoresis(HPCE) were carried out on all of the samples. The Hb Bart's〉0 was considered as α-thalassemia positive. Gene analysis were performed to accurately diagnosis the phenotypie positive samples by using the Gap-PCR and RDB method. In addition, the -α3.7/and-α4.2 /alleles, were defined in all umbilical cord blood samples for diagnosis of α-thalassemia silent carrier. Those unknown samples were characterized by DNA sequence analysis, multiplex ligation-dependent probe amplification (MLPA) and family analysis. [Results] 183 subjects with Hb Bart's positive were tested from the 2 500 umbilical cord blood samples. By gene analysis, the α-thalassemia genotypes of 255 individuals (258 mutation alleles) were identified. It was noticeable that 83 carriers of -α3.7/αα or -α4.2/αα and 2 carriers of SEA /αα were detected from Hb Barfs negative samples. The α-thalassemia carrier rate of population in Zhongshan city was 10.320/ (258/2 500) . The constituent ratios of four types of α-thalassemia mutation were 54.65% (-SEA/), 33. 33% (α3.7 /), 11. 24% (α4.2/) and 0.78% (αCSα/). [Conclusions] The carrier frequency of α-thalassemias in population at Zhongshan city is high. Four types of α-thalassemia mutation(-SEA/、-α3.7/、-α3.7/、-α4.2nd αCSα/)are found. The constituent ratio of SEA/ is the highest. It should be useful for controlling thalassemias at Zhongshan city.
出处 《中国儿童保健杂志》 CAS 2010年第5期361-364,共4页 Chinese Journal of Child Health Care
基金 广东省医学科研基金立项课题(2008824) 中山市专项规划及调研课题 中山市科技局项目(20082A120)
关键词 Α-地中海贫血 基因频率 流行病学 分子 α-thalassemia gene frequencies epidemiology molecular
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参考文献14

  • 1Saadi H, Alexander S, Barlow P, et al. Major alpha-thalassemia: antenatal diagnosis, case report and literature review[J]. J Gynecol Obstet Biol Reprod (Paris), 2009,38 (3): 258-262.
  • 2Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of a and β thalassaemia in Guangdong Province:implications for the future health burden and population screening[J]. J Clin Pathol,2004,57(5) :517-522.
  • 3Louahabi A, Philippe M, Lali S, et al. Evaluation of a new Sebia kit for analysis of hemoglobin fractions and variants on the Capillarys system[J]. Clin Chem Lab Med, 2006,44 (3) : 340-345.
  • 4陈亚军,陈培院,夏玉英,龚小倩.用gap-PCR筛查α-珠蛋白合成障碍性贫血基因携带者的评价[J].临床检验杂志,2006,24(4):259-261. 被引量:10
  • 5赵永忠,钟梅,刘忠英,徐湘民.PCR技术快速检测常见缺失型α-地中海贫血-2基因[J].中华医学遗传学杂志,2001,18(3):216-218. 被引量:34
  • 6Liu JZ, Han H, Sehouten JP, et al. Detection of alphathaiassemia in China by using multiplex ligation-dependent probe amplification[J]. Hemoglobin,2008,32(6):561-571.
  • 7周玉球,李莉艳,肖鸽飞,刘忠英,李文典,徐湘民.珠海市户籍人群中α-地中海贫血的分子流行病学调查[J].中华医学遗传学杂志,2002,19(4):358-360. 被引量:23
  • 8Li Z, Li F, Li M, et al. The prevalence and spectrum of thalassemia in Shenzhen, Guangdong Province, People's Republic of China[J]. Hemoglobin,2006,30(1):9-14.
  • 9陈亚军,贾世奇,陈培院,李莉艳,夏玉英,莫秋华,龚小倩,徐湘民.广东韶关市城镇人群α和β地中海贫血的分子流行病学调查[J].湖南师范大学学报(医学版),2005,2(1):40-45. 被引量:32
  • 10Lau YL, Chan LC, Chan YY,et al. Prevalence and genotypes of alpha-and beta-thalassemia carriers in Hong Kongimplications for population screeing[J].N Engl J Med, 1997,336 : 1298-1301.

二级参考文献48

  • 1曾瑞萍,胡彬,金龙金.广东地区血红蛋白H病基因型分析及高危胎儿基因诊断[J].中华医学遗传学杂志,1996,13(5):266-268. 被引量:69
  • 2全国血红蛋白病调查协作组.20个省、市、自治区60万人血红蛋白病调查[J].中华医学杂志,1983,64:382-385.
  • 3Rund D, Rachmilewitz E. Beta-thalassemia. N Engl J Med, 2005, 353 : 1135-1146.
  • 4Xu XM, Zhou YQ, Luo GX, et al. The prevalenee and spectrum of alpha and beta lhalassaemia in Guangdong Provillee: implications for the filture health burden and population screening. J Clin Pathol, 2004 .57 ;517-522.
  • 5Weatherall DJ,Clegg B. The thalassemia syndromes. Oxford:Blackwell Scientific .2001 , 133-191.
  • 6Old JM. Screening and genetic diagnosis of haemoglobin disorders, Blood Rev,2003, 17:43-53
  • 7A Working Party of the General Haematology Task Force of the British Committee for Standards in Haematolog? Laboratogy Diagnosis of Haentoglobinopathies. Br J Haemat. 1998.101:783-792.
  • 8Chan LC, M a SK,Chan AY,et al . Should we screen for globin genemutations in blood samples with mean corpuscular volume (MCV) greater than 80fl in areas with a high prevalence of thalassemia? J Clin Pathol, 2001,54 : 317-320.
  • 9Cappellini MD. Silent thalassemias, Haematologica, 1997,82:257- 258.
  • 10Chow J,Phelan L,Bain BJ. Evaluation of single-tube osmotic fragility as a screening test for thalassemia. Am J Hematol,2005,79:198- 201.

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