Random X chromosome inactivation in patients with Klinefelter syndrome.
Random X chromosome inactivation in patients with Klinefelter syndrome.
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DOI：
10.1186/s40348-020-0093-x
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发表时间：
2020-01-24
期刊：
影响因子：
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通讯作者：
Fukami, Maki
中科院分区：
文献类型：
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作者：
Kinjo, Kenichi;Yoshida, Tomoko;Fukami, Maki
背景：X染色体失活（XCI）是人类女性胚胎发育过程中不可或缺的一个过程。据报道，XCI发生在囊胚含有10-12个胚胎祖细胞时。迄今为止，它仍然不清楚是否XCI比率正常保存在Klinefelter综合征（KS）患者47，XXY karyotype.METHODS：我们检查了XCI比率在18例KS患者通过DNA甲基化分析的多态性三核苷酸位点的AR基因。结果：KS患者的XCI比值符合正态分布。在两名患者中观察到偏斜XCI，其中一名患者表现出极度偏斜XCI。在KS队列的频率偏态和极偏态XCI的健康women.CONCLUSION：这项研究证实了倾斜XCI KS患者的罕见性。这些结果表明，在卵裂和早期囊胚阶段的额外X染色体的存在并不影响胚胎的发育克里思。我们的数据值得进一步验证。
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.