论文部分内容阅读
目的:了解重庆市土家族和苗族育龄人群地中海贫血（简称地贫）基因的携带率和基因突变类型。方法:2019年3-7月，采用前瞻性设计和多阶段分层整群随机抽样方法，在重庆市的11个调查点，采集土家族和苗族育龄人群的空腹静脉血，利用跨越断裂点（Gap）-PCR和高通量测序方法进行地贫基因检测。结果:共调查土家族人群516例，年龄为（28.63 ± 5.26）岁，男性258例、女性258例；苗族人群270例，年龄为（28.62 ± 5.35）岁，男性139例、女性131例。土家族地贫基因携带率为5.04%（26/516），α、β地贫的携带率分别为1.94%（10/516）和2.52%（13/516）；检出3种临床意义不明的新发突变，分别为HBAn 2：c.46G>A（Gly>Ser）、HBB：c.*+129T>A、HBB：c.-39T>G，各1例。苗族地贫基因携带率为7.78%（21/270），α、β地贫的携带率分别为3.33%（9/270）和4.44%（12/270）。土家族和苗族α地贫基因型均以-αn 3.7/为主；β地贫基因型土家族Codons 41/42（-TTCT）betan 0、Codon 17（A>T）betan 0、IVS-Ⅱ-654（C>T）betan +均较多，苗族以Codons 41/42（-TTCT）betan 0为主。n 结论:重庆市土家族和苗族地贫基因携带率均较高，不同民族间地贫基因类型不同。3种临床意义不明新发突变基因型的临床意义应重点关注。“,”Objective:The aim of this study was to investigate the carrier ratio and the genotype of thalassemia among Tujia and Miao people of reproductive age in Chongqing.Methods:According to forward-looking design and multi-stage stratified cluster sampling method, fasting venous blood samples of Tujia and Miao people of reproductive age were collected from 11 survey sites in Chongqing from March to July 2019. Gap-PCR and high-throughput sequencing were used to screen thalassemia genes.Results:A total of 516 Tujia people (258 males, 258 females) and 270 Miao people (139 males, 131 females) were included in this study, and their age were (28.63 ± 5.26) and (28.62 ± 5.35) years, respectively. About 5.04% (26/516) Tujia people carried thalassemia gene, with 1.94% (10/516) and 2.52% (13/516) for α and β thalassemia, respectively. Three kinds of new variants (1 case of each variant), HBA n 2: c.46G>A (Gly>Ser), HBB: c.*+129T>A and HBB: c.-39T>G with unclear pathogenicity, were identified in Tujia people. About 7.78% (21/270) Miao people carried thalassemia gene, among these, α and β thalassemia were 3.33% (9/270) and 4.44%(12/270), respectively. The most common mutation type of α-globin gene was -αn 3.7/in the two ethnic groups. Three kinds of β-globin gene mutation types, Codons 41/42 (-TTCT) beta n 0, Codon 17 (A>T) betan 0 and IVS-Ⅱ-654 (C>T) betan +, were the most common in Tujia people. Meanwhile, the chief β-globin gene mutation type was Codons 41/42 (-TTCT) beta n 0 in Miao people.n Conclusions:The carrying rate of thalassemia gene is higher in Tujia and Miao people in Chongqing, and the genotypes of thalassemia gene are different between Tujia and Miao people. The clinical significance of three kinds of new variants with unclear pathogenicity should be focused on.