| 引用本文： |
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陈剑锋,龙桂芳.广西地区β地中海贫血杂合子β-LCR-HS2多态性序列分析[J].广西科学,2004,11(2):127-130,133. [点击复制]
- Chen Jianfeng,Long Guifang.Analysis of Polymorphic Sequence in β-LCR-HS2 of β-thalassemia Heterozygous in Guangxi[J].Guangxi Sciences,2004,11(2):127-130,133. [点击复制]
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| 摘要: |
| 分别应用PCR产物直接测序法和PCR-限制性内切酶Xmn酶切法分析17例广西地区β地中海贫血杂合子的34条染色单体上β-LCR-HS2核心区AT重复序列(AT)xNy(AT)z多态性类型及8580、8598、9114位点碱基改变、Gγ珠蛋白基因启动子-158位点(Gγ-158)单核苷酸多态性(SNP),并观察它们与高HbFβ地中海贫血杂合子的关系。结果共检出9种(AT)xNy(AT)z类型:(AT)9N12(AT)11、(AT)8N12(AT)11、(AT)9N12(AT)10、(AT)10N12(AT)11、(AT)9N13(AT)11、(AT)9N14(AT)9、(AT)10N12(AT)10、(AT)8N12(AT)14和(AT)9N14(AT)10,其中前3种类型检出最多(73.5%)。β-LCR-HS2的8580、8598、9114位点均未发现突变。HbF>3%的12例受检者有6例Gγ-158基因型为C/T,6例为C/C;作为对照的5例HbF正常(<2%)者均为Gγ-158(C/C)。(AT)9N12(AT)10主要在6例HbF>3%且Gγ-158(C/T)的个体中检出(5/6)。提示(AT)9N12(AT)10与HbF升高有一定关系,而且与Gγ-158(C→T)突变存在不平衡连锁倾向。 |
| 关键词: β地中海贫血 位点控制区 Gγ珠蛋白 基因 多态性 胎儿血红蛋白 |
| DOI： |
| 投稿时间：2003-09-22修订日期：2003-12-25 |
| 基金项目: |
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| Analysis of Polymorphic Sequence in β-LCR-HS2 of β-thalassemia Heterozygous in Guangxi |
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Chen Jianfeng1, Long Guifang2
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| (1.Dept of Pediatrics, the Second Affiliated Hospital, Guangxi Medical Univ, 32 Daxuelu, Nanning, Guangxi, 530007, China;2.Dept of Pediatrics, the First Affiliated Hospital, Guangxi Medical Univ, Binhulu, Nanning, Guangxi, 530021, China) |
| Abstract: |
| 34 chromosomes of 17 β-thalassemia heterozygous in Guangxi were studied. DNA sequence in the core region of β-LCR-HS2 including AT repeats[(AT)xNy(AT)z] and three single nucleotide polymorphisms(SNPs) at 8580,8598 and 9114 sites were detected by PCR-direct nucleotide sequencing and,SNP at-158 site of Gγ gene promoter(Gγ-158) was detected by XmnⅠ restriction enzyme digesting after PCR amplification.The relationship between these polymorphisms and the elevation of fetal hemoglobin(HbF) are determined. 9 kinds of (AT)xNy(AT)z motif were detected in 34 chromosomes,namely (AT)9N12(AT)11,(AT)8N12(AT)11,(AT)9N12(AT)10,(AT)10N12(AT)11,(AT)9N13(AT)11,(AT)9N14(AT)9,(AT)10N12(AT)10,(AT)8N12(AT)14 and (AT)9N14(AT)10(AT)9N12(AT)11,(AT)8N12(AT)11 and (AT)9N12(AT)10 were the most three patterns(73.5%). No mutation was found at 8580,8598 and 9114 sites of β-LCR-HS2.Among 12 cases with HbF>3%,6 carried genotypes of Gγ-158 (C/T),while the others carried Gγ-158 (C/C). In control group,the genotypes of Gγ-158 of all 5 cases with normal HbF levels (<2%) were C/C. In 6 patients characterized by HbF>3% and Gγ-158(C/T),most of them carried (AT)9N12(AT)10 motifs(5/6). Our study had implied that (AT)9N12(AT)10 motif was linked to the elevation of HbF in β-thalassemia heterozygous from Guangxi,and had linkage disequilibrium with Gγ-158(C→T) mutation. |
| Key words: β-thalassemia locus control region Gγ-globin gene polymorphism fetal hemoglobin |
