利用下一代测序进行的罗氏易位携带者1例遗传学诊断
摘要
<正>罗氏易位指2个近端着丝粒染色体在着丝处或其附近断裂后融合成为1个染色体,导致染色体数减少,长臂数不变,短臂数减少2条的现象。罗氏易位发生在5条近端着丝粒染色体(13、14、15、21、22号染色体)上,罗氏易位携带者只有45条染色体,缺少1条染色体~([1])。其人群携带率为1.23/1 000,占不孕人群的2%～3%~([2])。
引文
[1] WANG B,NIE B,TANG D et al.Analysis of meiotic segregation patterns and interchromosomal effects in sperm from 13robertsonian translocations[J].Balkan J Med Genet,2017,20(1):43-50.
[2] XIE Y,XU Y,WANG J,et al.Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray[J].J Assist Reprod Genet,2018,35(1):177-186.
[3] LAUDAT A,SERERO S,SERIDI I,et al.Trisomy 13by robertsonian translocation rob(13;13)(q10;q10)+13:about one case[J].Ann Biol Clin(Paris),2017,75(6):695-698.
[4] HUANG S,JUNEAU K,BOGARD P E et al.Identifying robertsonian translocation carriers by microarray-based DNA analysis[J].Fetal Diagn Ther,2016,40(1):59-62.
[5]白文俊,耿冲.男性因素与复发性流产[J].实用妇产科杂志,2016,32(2):94-95.
[6] SHA J,LIU F,ZHANG B,et al.Next-generation sequencing and karyotype analysis for the diagnosis of robertsonian translocation type trisomy 13:a case report[J].Iran J Public Health,2017,46(6):848-851.
[7]张月萍,朱赛娟,刘素英,等.胚胎植入前诊断中多轮荧光原位杂交效果及影响因素分析[J].中华医学遗传学杂志,2013,30(5):522-527.
[8] BEYER C E,WILLATS E.Natural selection between day3and day 5/6PGD embryos in couples with reciprocal or Robertsonian translocations[J].J Assist Reprod Genet,2017,34(11):1483-1492.
[9] LUKASZUK K,PUKSZTA S,OCHMAN K,et al.Healthy baby born to a robertsonian translocation carrier following next-generation sequencing-based preimplantation genetic diagnosis:a case report[J].AJP Rep,2015,5(2):e172-175.
[10]YANG Z,LIN J,ZHANG J,et al.Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening:apilot study[J].BMC Med Genomics,2015,8:30
[11]NISSON H,KILTZ R,CEKLENIAK N,et al.Miscarriage rate comparison of PGS cycles performed with array comparative genome hybridization(aCGH)and next generation sequencing(NGS)[J].Fertility and Sterility,2016,106(3):e162.
[12]张雯珂,徐晓菲,李敏,等.染色体易位携带者胚胎植入前遗传学诊断进展[J].国际生殖健康/计划生育杂志,2015,34(4):324-327.
[13]XU J,ZHANG Z,NIU W,et al.Mapping allele with resolved carrier status of robertsonian and reciprocal translocation in human preimplantation embryos[J].Proc Natl Acad Sci U S A,2017,114(41):E8695-8702.
[14]FRAGOULI E.Preimplantation genetic diagnosis:present and future[J].J Assist Reprod Genet,2007,24(6):201-207.
[15]徐宾,加米拉·热扎克,夏燕,等.维吾尔族罗伯逊易位型21三体综合征四例[J].中华医学遗传学杂志,2016,33(3):427.
[16]LIEBAERS I,DESMYTTERE S,VERPOEST W,et al.Report on a consecutive series of 581children born after blastomere biopsy for preimplantation genetic diagnosis[J].Hum Reprod,2010,25(1):275-282.
[17]SCHENDELAAR P,MIDDELBURG K J,BOS A F,et al.The effect of preimplantation genetic screening on neurological,cognitive and behavioural development in 4-year-old children:follow-up of a RCT[J].Hum Reprod,2013,28(6):1508-1518.
[18]XU J,FANG R,CHEN L,et al.Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization[J].Proc Natl Acad Sci U S A,2016,113(42):11907-11912.
[2] XIE Y,XU Y,WANG J,et al.Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray[J].J Assist Reprod Genet,2018,35(1):177-186.
[3] LAUDAT A,SERERO S,SERIDI I,et al.Trisomy 13by robertsonian translocation rob(13;13)(q10;q10)+13:about one case[J].Ann Biol Clin(Paris),2017,75(6):695-698.
[4] HUANG S,JUNEAU K,BOGARD P E et al.Identifying robertsonian translocation carriers by microarray-based DNA analysis[J].Fetal Diagn Ther,2016,40(1):59-62.
[5]白文俊,耿冲.男性因素与复发性流产[J].实用妇产科杂志,2016,32(2):94-95.
[6] SHA J,LIU F,ZHANG B,et al.Next-generation sequencing and karyotype analysis for the diagnosis of robertsonian translocation type trisomy 13:a case report[J].Iran J Public Health,2017,46(6):848-851.
[7]张月萍,朱赛娟,刘素英,等.胚胎植入前诊断中多轮荧光原位杂交效果及影响因素分析[J].中华医学遗传学杂志,2013,30(5):522-527.
[8] BEYER C E,WILLATS E.Natural selection between day3and day 5/6PGD embryos in couples with reciprocal or Robertsonian translocations[J].J Assist Reprod Genet,2017,34(11):1483-1492.
[9] LUKASZUK K,PUKSZTA S,OCHMAN K,et al.Healthy baby born to a robertsonian translocation carrier following next-generation sequencing-based preimplantation genetic diagnosis:a case report[J].AJP Rep,2015,5(2):e172-175.
[10]YANG Z,LIN J,ZHANG J,et al.Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening:apilot study[J].BMC Med Genomics,2015,8:30
[11]NISSON H,KILTZ R,CEKLENIAK N,et al.Miscarriage rate comparison of PGS cycles performed with array comparative genome hybridization(aCGH)and next generation sequencing(NGS)[J].Fertility and Sterility,2016,106(3):e162.
[12]张雯珂,徐晓菲,李敏,等.染色体易位携带者胚胎植入前遗传学诊断进展[J].国际生殖健康/计划生育杂志,2015,34(4):324-327.
[13]XU J,ZHANG Z,NIU W,et al.Mapping allele with resolved carrier status of robertsonian and reciprocal translocation in human preimplantation embryos[J].Proc Natl Acad Sci U S A,2017,114(41):E8695-8702.
[14]FRAGOULI E.Preimplantation genetic diagnosis:present and future[J].J Assist Reprod Genet,2007,24(6):201-207.
[15]徐宾,加米拉·热扎克,夏燕,等.维吾尔族罗伯逊易位型21三体综合征四例[J].中华医学遗传学杂志,2016,33(3):427.
[16]LIEBAERS I,DESMYTTERE S,VERPOEST W,et al.Report on a consecutive series of 581children born after blastomere biopsy for preimplantation genetic diagnosis[J].Hum Reprod,2010,25(1):275-282.
[17]SCHENDELAAR P,MIDDELBURG K J,BOS A F,et al.The effect of preimplantation genetic screening on neurological,cognitive and behavioural development in 4-year-old children:follow-up of a RCT[J].Hum Reprod,2013,28(6):1508-1518.
[18]XU J,FANG R,CHEN L,et al.Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization[J].Proc Natl Acad Sci U S A,2016,113(42):11907-11912.