Random X chromosome inactivation in patients with Klinefelter syndrome.

IF 2.4 Q1 PEDIATRICS

Molecular and cellular pediatrics Pub Date : 2020-01-24 DOI:10.1186/s40348-020-0093-x

Kenichi Kinjo, Tomoko Yoshida, Yoshitomo Kobori, Hiroshi Okada, Erina Suzuki, Tsutomu Ogata, Mami Miyado, Maki Fukami

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引用次数: 7

Abstract

Background: X chromosome inactivation (XCI) is an indispensable process in the development of human female embryos. Reportedly, XCI occurs when a blastocyst contains 10-12 embryonic progenitor cells. To date, it remains unclear whether XCI ratios are normally preserved in Klinefelter syndrome (KS) patients with 47,XXY karyotype.

Methods: We examined XCI ratios in 18 KS patients through DNA methylation analysis for the polymorphic trinucleotide locus in the AR gene. The results of the KS patients were compared to previous data from healthy young women.

Results: XCI ratios in KS patients followed a normal distribution. Skewed XCI was observed in two patients, one of whom exhibited extremely skewed XCI. The frequencies of skewed and extremely skewed XCI in the KS cohort were comparable to those in healthy women.

Conclusion: This study confirmed the rarity of skewed XCI in KS patients. These results indicate that the presence of a supernumerary X chromosome during the cleavage and early blastocyst stages does not affect the developmental tempo of embryos. Our data deserve further validation.

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Klinefelter综合征患者随机X染色体失活。

背景:X染色体失活(XCI)是人类女性胚胎发育过程中不可缺少的过程。据报道，当囊胚含有10-12个胚胎祖细胞时，XCI就会发生。迄今为止，仍不清楚XCI比率是否正常保存在Klinefelter综合征(KS)患者的47xxy核型。方法:通过对AR基因多态三核苷酸位点的DNA甲基化分析，检测18例KS患者的XCI比率。将KS患者的结果与之前健康年轻女性的数据进行比较。结果:KS患者XCI比值服从正态分布。在2例患者中观察到偏斜的XCI，其中1例表现为极端偏斜的XCI。KS队列中XCI偏斜和极度偏斜的频率与健康女性相当。结论:本研究证实了KS患者XCI偏斜的罕见性。这些结果表明，在卵裂期和囊胚早期存在多余的X染色体并不影响胚胎的发育速度。我们的数据值得进一步验证。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular and cellular pediatrics

CiteScore

2.20

自引率

0.00%

发文量