目的 分析广西不孕不育患者地中海贫血检出率及基因分布情况.方法 纳入广西各市县的16111例不孕不育患者,均行血常规及血红蛋白电泳检测后,筛查阳性者行α地中海贫血常见7种基因型及β地中海贫血常见17种点突变检测.结果 在16111例患者中,共检出地中海贫血3282例,总检出率为20.37％.共检出α地中海贫血2322例,检出率为14.41％,常见的基因型为--SEA/αα、-α3.7/αα、αCSα/αα和-α4.2/αα;共检出β地中海贫血960例,检出率为5.96％,常见的基因型为βCD41/42/βN、βCD17/βN和β-28/βN;共检出αβ复合型地贫144例,检出率为0.89％,以--SEA/αα复合βCD41-42/βN、--SEA/αα复合βCD17/βN及-α3.7/αα复合βCDs41-42/βN最为常见.结论 广西不孕不育患者地中海贫血检出率较高,常见的α地中海贫血基因型为--SEA/αα、-α3.7/αα、αCSα/αα 和-α4.2/αα,常见的 β 地中海贫血基因型为 βCD41/42/βN、βCD17/βN和β-28/βN,但不孕不育人群地中海贫血检出率和基因型分布或存在地域差异与种族特征.

目的 对206例非典型地中海贫血患者进行HBB(血红蛋白)基因测序,就非热点突变分布情况进行分析.方法 选取我院2012年1月至2019年1月收治的206例非典型地中海贫血患者,梳理临床资料,结合血红蛋白A2(HbA2)分布态势,借助PCR-反向斑点杂交法进行血红蛋白基因突变率统计,了解常见突变类型、占比情况.结果 HbA2分布处于2.5-3.5%之间的患者共92例,占比44.66%(92/206).HBB基因测序见非热点突变27例,占比29.35%(27/92).包括多个类型.结论 非典型地中海贫血HBB基因测序可发现非热点突变信息,类别较多且多与血红蛋白变异存在直接关联.

目的 分析卵巢血流动力学参数与卵泡输出率(FORT)的关系,探讨彩色多普勒超声在输卵管积水患者体外受精-胚胎移植(IVF-ET)辅助生殖中的应用价值.方法 选取首次接受IVF-ET助孕的239例妇女,其中121例单侧或双侧输卵管积水患者纳入积水组,118例因男方因素不孕者纳入对照组.比较两组卵巢基质动脉血流参数、FORT,并对积水组FORT的相关因素进行分析.结果 积水组卵巢基质血流搏动指数(PI)、阻力指数(RI)与对照组比较,差异无统计学意义(P＞0.05).积水组收缩期峰值流速(PSV)、FORT均低于对照组(均P＜0.05).积水组年龄与FORT呈负相关,PSV与FORT呈正相关(均P＜0.05).结论 经阴道彩色多普勒超声是评估输卵管积水患者卵巢血供情况的重要手段,结合对患者FORT的评估,可有效预测卵巢反应性.

Objective Investigation of the carrier rate, genotyping and genotype frequency of alpha-thalassemia among infertile subjects in Guangxi, and analysis of the relationship between the results of hemoglobin electrophoresis and hematologic parameters among patients with three phenotypes of alpha-thalassemia and subjects with non-thalassemia. Methods The preliminarily patients who were diagnosed as beta-thalassemia via HbA2>3.5％ and/or HbF> 2％ were excluded. Alpha-thalassemia genes of 10 020 infertile subjects were detected in our center from 2017 to 2018, and the results of hemoglobin electrophoresis and hematologic parameters in patients with three phenotypes of alpha-thalassemia were compared. Results 624 patients with alpha-thalassemia were confirmed via gene diagnostic technique, including 19 genotypes, total carrier rate for 6.23％, 275 (2.74％) patients with silent alpha-thalassemia, 326 (3.25％) patients with alpha-thalassemia trait and 23 (0.23％) patients with HbH disease. The most common genotype was--SEA/αα, followed by-α3.7/αα and α, CSα/αα. The parameters of MCV, MCH, MCHC, Hb, HCT, HbA2 were lower, but the value of RBC were higher (both P < 0.05) , in patients with three phenotypes of alpha-thalassemia than subjects with non-thalassemia. The parameters mentioned above excluding HbA2 in patients with alpha-thalassemia showed the following regularity : silent alpha-thalassemia> potential alpha-thalassemia> HbH disease. RBC value tended to increase gradually in patients with silent alpha-thalassemia, potential alpha-thalassemia and HbH disease. Conclusion Infertility with alpha-thalassemia is very popular in Guangxi, especially--SEA/αα which is the most common genotype. The value of MCV, MCH, MCHC, Hb, RBC and HCT are conducive to screening for infertile subjects with alpha-thalassemia, and have certain clinical value for differentiating three phenotypes of alpha-thalassemia.

目的 探讨珠蛋白生成障碍性贫血的干预模式.方法 建立珠蛋白生成障碍性贫血干预示范点,对新婚夫妇和其他已婚待孕夫妇进行珠蛋白生成障碍性贫血的检测;建立珠蛋白生成障碍性贫血夫妇的数据库,对珠蛋白生成障碍性贫血高危夫妇进行跟踪随访,督促落实产前诊断措施.结果 在3个示范点,共为85857人开展珠蛋白生成障碍性贫血检测,检出珠蛋白生成障碍性贫血19886人次,发现高危夫妇1507对,跟踪产前诊断307例,避免了91例重症珠蛋白生成障碍性贫血患儿的出生.结论 在广西实施珠蛋白生成障碍性贫血的干预工作,能有效减少珠蛋白生成障碍性贫血出生缺陷患儿的出生,是提高广西出生人口素质的重要措施.

广西是世界地中海贫血(简称地贫)高发区,发生率约为20%[1],实施一级预防.是有效减少出生缺陷发生率、提高出生人口素质的重要举措.跟踪随访工作是地贫干预不可或缺的内容,跟踪随访是否到位,直接关系到地贫高危夫妇有否落实产前诊断措施.

地中海贫血(简称地贫)是由于珠蛋白基因的缺失或缺陷,使一种或几种正常的珠蛋白链合成受到抑制所引起的溶血性贫血[1].广西是世界地中海贫血高发区之一,其发生率约占20%[2].为了减少重症地中海贫血患儿的出生,降低出生缺陷发生率,提高出生人口素质,广西计划生育技术服务网络早在1996年即开展了对地中海贫血的干预工作,摸索了一套行之有效的地中海贫血干预的经验.

Objective We aim to establish an approach to dual-color fluorescence in situ hybridization(FISH) of sperm chromosome X and Y in male infertility.Methods Twenty cases' samples were collected,later washed with 1×PBS and treated with KCl hypotonic solution,then immobilized with methanol and acetic acid(3 ∶1),dropped on the slides and agglutinated with DTT.Finally,the dual-color FISH were performed on human sperm nucleus using centromeric probes for chromosome X and Y.Results There were 6 672 sperms were counted in this experiment,X chromosome rate was 47.78%,Y chromosome rate was 47.24%,sx chromosome abnormal rate was 4.53%,and hybridization rate was 99.55%.Conclusion Dual-color FISH method to analyze sperm chromosome X and Y in male infertility had been set up successfully.