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单核酸多态阵列和光 in situ 杂交分析来解码非典型的部分水性形的细胞遗传特征,通过短串联重复多态分析来诊断

Yoshiya Suzuki¹, Hirokazu Usui^1,2, Eri Katayama¹

¹Department of Obstetrics and Gynecology, Chiba University Hospital, Chiba University, Chiba, Japan.

Genes, chromosomes & cancer

|May 23, 2024

概括

短串联重复 (STR) 分析在使用15+位点时,准确地诊断出来自水性流产的部分水性形 (PHM). 然而,复杂的病例,如雄激素/双亲的马赛克需要光 in situ 杂交 (FISH) 确定诊断.

科学领域:

生殖医学生殖医学
遗传学遗传学是一个
妇科瘤学妇科瘤学

背景情况:

准确诊断部分水性形 (PHMs) 对于管理妊娠 trofhoblastic瘤至关重要.
短串联重复 (STR) 多态度分析是区分PHM与水性流产的一个关键工具.

研究的目的:

评估STR分析在区分PHM和水性流产时的诊断效果.
评估STR分析在各种PHM细胞遗传特征中的可靠性.

主要方法:

在79例确诊的PHM病例中,对STR多态性分析进行了回顾性图表审查.
使用商业套件分析了16个STR位点在新鲜的和血液样本上.
在复杂情况下使用光在位杂交 (FISH) 和单核酸多态阵列分析.

主要成果:

在大多数情况下,当至少分析了15个位置时,STR分析可靠地将PHM与水性流产区分开来.
七个PHM需要额外的FISH和SNP阵列分析,因为缺少三样基位点.
在复杂的病例中,FISH证实了特定的细胞遗传模式,包括androgenetic/biparental马赛克和各种triploid形式.

结论:

STR分析是PHM诊断的强大工具,特别是具有全面的位置覆盖.
在PHM病例中,FISH对于确认非典型细胞遗传模式的诊断至关重要,例如雄激素/双亲马赛克.
结合STR和FISH提供了一种可靠的方法,用于准确的PHM诊断和改善妊娠 trofhoblastic瘤的管理.

关键词:

光在现场混合化光.p57KIP2 免疫组织化学部分水性形分子短串联重复多形态的多形态.

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Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...