Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary
Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary
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β地中海贫血植入前基因检测中的核型定位与 HLA 匹配相结合：系统总结
DOI：
10.1007/s10815-019-01595-7
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发表时间：
2019-11-22
影响因子：
3.1
通讯作者：
Xu，Yan-Wen
中科院分区：
文献类型：
--
作者：
Wang，Jing;Lu，Bao-Min;Xu，Yan-Wen
目的探讨染色体核型分析（Karyomapping）在β-地中海贫血植入前遗传学检测（PGT）联合人类白细胞抗原（HLA）配型中的有效性、准确性及临床结局。结果病例组与对照组的HLA配型率（21.34vs.14.37）、可移植胚胎配型率（www.example.com %）、临床妊娠率（65.08vs.41.86%）、自然流产率（2.44vs.22.22 %）差异均有统计学意义（P < 0.05）。9.79vs.14.07病例组中近1/3（33.37%）的胚胎为非整倍体。单核苷酸多态性（SNP）单倍型分析结果显示，HBB和HLA基因重组率分别为11.46%和5.61%，HLA基因重组主要分布在HLA-A和HLA-B以及HLA-DQB 1下游区域。此外，STR分析可以考虑的情况下，拷贝中性杂合性丢失（洛）在该地区的HLA基因location.ConclusionKaryomapping有助于准确选择匹配的胚胎，沿着非整倍体筛选。然而，STR有助于鉴定靶区域的洛缺失。
PurposeTo investigate the validity, accuracy, and clinical outcomes of Karyomapping in preimplantation genetic testing (PGT) for β-thalassemia combined with human leukocyte antigen (HLA) matching.MethodsA total of 128 cycles from January 2014 to December 2017 were identified, and 1205 embryos were biopsied. The case group included 88 cycles using Karyomapping for PGT-HLA, compared with 40 cycles using polymerase chain reaction-short tandem repeat (PCR-STR) as the control group.ResultsThere were significant differences in the HLA matching rate (21.34vs.14.37%), the matched transferable embryo rate (9.79vs.14.07%), the clinical pregnancy rate (65.08vs.41.86%), and the spontaneous miscarriage rate (2.44vs.22.22%) between the case and control groups. In the case group, nearly 1/3 (33.37%) of the embryos showed aneuploidy. According to the results of single nucleotide polymorphism (SNP) haplotype analysis, the recombination rates ofHBB(hemoglobin subunit beta) andHLAwere 11.46% and 5.61% respectively.HLAgene recombination was mostly distributed between HLA-A and HLA-B and the downstream region of HLA-DQB1. In addition, STR analysis could be considered in the case of copy-neutral loss of heterozygosity (LOH) in the region where theHLAgene is located.ConclusionKaryomapping contributes to accurate selection of matched embryos, along with aneuploidy screening. However, STRs assist identification in cases of LOH in the target region.