Preimplantation genetic testing(PGT),which was developed as an alternative to prenatal genetic testing,allows couples to avoid pregnancies with abnormal chromosomes and the subsequent termination of the affected fetus...Preimplantation genetic testing(PGT),which was developed as an alternative to prenatal genetic testing,allows couples to avoid pregnancies with abnormal chromosomes and the subsequent termination of the affected fetus.Originally used for early onset monogenic conditions,PGT is now used to prevent various types of inherited cancer conditions based on the development of PGT technology,assisted reproductive techniques(ARTs),and in vitro fertilization(IVF).This review provides insights into the potential benefits and challenges associated with the application of PGT for hereditary cancer and provides an overview of the existing literature on this test,with a particular focus on the current challenges related to laws,ethics,counseling,and technology.Additionally,this review predicts the future potential applications of this method.Although PGT may be utilized to predict and prevent hereditary cancer,each case should be comprehensively evaluated.The motives of couples must be assessed to prevent the misuse of this technique for eugenic purposes,and non-pathogenic phenotypes must be carefully evaluated.Pathological cases that require this technology should also be carefully considered based on legal and ethical reasoning.PGT may be the preferred treatment for hereditary cancer cases;however,such cases require careful case-by-case evaluations.Therefore,this study concludes that multidisciplinary counseling and support for patients and their families are essential to ensure that PGT is a viable option that meets all legal and ethical concerns.展开更多
目的探讨南平市罕见地中海贫血基因突变类型的分布情况。方法选取2017年1月至2022年12月在南平市妇幼保健院产前诊断中心进行地中海贫血筛查的4962例患者作为研究对象,其中男2435例,女2527例,年龄19~48岁。通过地中海贫血外周血筛查、...目的探讨南平市罕见地中海贫血基因突变类型的分布情况。方法选取2017年1月至2022年12月在南平市妇幼保健院产前诊断中心进行地中海贫血筛查的4962例患者作为研究对象,其中男2435例,女2527例,年龄19~48岁。通过地中海贫血外周血筛查、基因检测、Sanger测序等方法分析患者罕见地中海贫血基因突变类型。结果共检出121例罕见类型地中海贫血基因突变,以α地中海贫血和β地中海贫血为主,分别占50.41%(61/121)和37.19%(45/121)。此外,γ地中海贫血3例,δ地中海贫血10例,αβ复合型地中海贫血2例。共发现57种基因突变类型,以IVS-Ⅱ-55(T>G) in α2为主,占比20.66%(25/121),其次为CD113(T>A) in β( Hb New York)、IVS-Ⅱ-81(C>T) in β 和CD56(G>A) in β (Hb J-Bangkok),分别占4.96%(6/121)、4.96%(6/121)和4.13%(5/121)。发现了多种地中海贫血基因突变类型,包括9种α基因突变[-21G>A in α1、+3(T>C) in α1、CD16(A>C) in α1、CD106(C>G) in α2、IVS-I-9(C>T) in α1、IVS-Ⅱ-17(G>A) in α2、IVS-Ⅱ-35(G>A) in α1、IVS-Ⅱ-88(G>A) in α2、-35T>C in α1合并IVS-Ⅱ-55(T>G) in α2]、7种β基因突变[-96(G>T) in β、IVS-Ⅱ-827(A>T) in β、CD10(C>T) in β合并CD81(C>A) in β、CD17(A>T) in β合并CD56(C>T) inβ、IVS-Ⅱ-81(C>T) in β合并CD56(G>A) in β、IVS-Ⅱ-81 C>T in β合并CD113(T>A) in β、IVS-Ⅱ-806(G>C) in β合并-84(A>G) in β]、3种γ基因突变[-365(G>C) in Aγ合并-352(A>G) in Aγ合并-158(C>T) in Gγ、-158(C>T) in Aγ 合并-158(C>T) in Gγ、-196(C>T) in Aγ]、1 种δ 基因突变[(CD38(C>A) in δ合并CD39(C>A) in δ)]和2种αβ复合型基因突变[IVS-Ⅱ-65(G>A) in α1合并CD 22(A>C) in β、IVS-Ⅱ-55(T>G) in α2合并IVS-Ⅱ-81(C>T) in β]。结论 南平地区人群存在一定比例的罕见类型地中海贫血基因突变情况。罕见类型地中海贫血基因突变的准确检测对本地区人群地中海贫血的临床诊断起到了重要补充作用,可为本地区地中海贫血基因产前诊断、遗传咨询和优生优育提供有价值的参考资料。展开更多
文摘Preimplantation genetic testing(PGT),which was developed as an alternative to prenatal genetic testing,allows couples to avoid pregnancies with abnormal chromosomes and the subsequent termination of the affected fetus.Originally used for early onset monogenic conditions,PGT is now used to prevent various types of inherited cancer conditions based on the development of PGT technology,assisted reproductive techniques(ARTs),and in vitro fertilization(IVF).This review provides insights into the potential benefits and challenges associated with the application of PGT for hereditary cancer and provides an overview of the existing literature on this test,with a particular focus on the current challenges related to laws,ethics,counseling,and technology.Additionally,this review predicts the future potential applications of this method.Although PGT may be utilized to predict and prevent hereditary cancer,each case should be comprehensively evaluated.The motives of couples must be assessed to prevent the misuse of this technique for eugenic purposes,and non-pathogenic phenotypes must be carefully evaluated.Pathological cases that require this technology should also be carefully considered based on legal and ethical reasoning.PGT may be the preferred treatment for hereditary cancer cases;however,such cases require careful case-by-case evaluations.Therefore,this study concludes that multidisciplinary counseling and support for patients and their families are essential to ensure that PGT is a viable option that meets all legal and ethical concerns.
文摘目的探讨南平市罕见地中海贫血基因突变类型的分布情况。方法选取2017年1月至2022年12月在南平市妇幼保健院产前诊断中心进行地中海贫血筛查的4962例患者作为研究对象,其中男2435例,女2527例,年龄19~48岁。通过地中海贫血外周血筛查、基因检测、Sanger测序等方法分析患者罕见地中海贫血基因突变类型。结果共检出121例罕见类型地中海贫血基因突变,以α地中海贫血和β地中海贫血为主,分别占50.41%(61/121)和37.19%(45/121)。此外,γ地中海贫血3例,δ地中海贫血10例,αβ复合型地中海贫血2例。共发现57种基因突变类型,以IVS-Ⅱ-55(T>G) in α2为主,占比20.66%(25/121),其次为CD113(T>A) in β( Hb New York)、IVS-Ⅱ-81(C>T) in β 和CD56(G>A) in β (Hb J-Bangkok),分别占4.96%(6/121)、4.96%(6/121)和4.13%(5/121)。发现了多种地中海贫血基因突变类型,包括9种α基因突变[-21G>A in α1、+3(T>C) in α1、CD16(A>C) in α1、CD106(C>G) in α2、IVS-I-9(C>T) in α1、IVS-Ⅱ-17(G>A) in α2、IVS-Ⅱ-35(G>A) in α1、IVS-Ⅱ-88(G>A) in α2、-35T>C in α1合并IVS-Ⅱ-55(T>G) in α2]、7种β基因突变[-96(G>T) in β、IVS-Ⅱ-827(A>T) in β、CD10(C>T) in β合并CD81(C>A) in β、CD17(A>T) in β合并CD56(C>T) inβ、IVS-Ⅱ-81(C>T) in β合并CD56(G>A) in β、IVS-Ⅱ-81 C>T in β合并CD113(T>A) in β、IVS-Ⅱ-806(G>C) in β合并-84(A>G) in β]、3种γ基因突变[-365(G>C) in Aγ合并-352(A>G) in Aγ合并-158(C>T) in Gγ、-158(C>T) in Aγ 合并-158(C>T) in Gγ、-196(C>T) in Aγ]、1 种δ 基因突变[(CD38(C>A) in δ合并CD39(C>A) in δ)]和2种αβ复合型基因突变[IVS-Ⅱ-65(G>A) in α1合并CD 22(A>C) in β、IVS-Ⅱ-55(T>G) in α2合并IVS-Ⅱ-81(C>T) in β]。结论 南平地区人群存在一定比例的罕见类型地中海贫血基因突变情况。罕见类型地中海贫血基因突变的准确检测对本地区人群地中海贫血的临床诊断起到了重要补充作用,可为本地区地中海贫血基因产前诊断、遗传咨询和优生优育提供有价值的参考资料。
