全基因组低覆盖度高通量测序技术检测X染色体部分缺失和重复的卵巢早衰患者一例

发布时间：2018-07-09 12:03

本文选题：卵巢早衰 + 缺失　；参考：《中国优生与遗传杂志》2016年12期

【摘要】：目的分析一名卵巢早衰(POF)患者可能的致病遗传学原因,分析其染色体变异与表型的相关性。方法应用常规G显带分析患者外周血染色体核型,再应用全基因组低覆盖度高通量测序技术进行染色体拷贝数变异分析。结果该女性患者的染色体核型为46,X,del(X)(q24),全基因组低覆盖度高通量测序结果显示为46,XX,dup(X)(p22.2-p22.33),del(q22.3-q28),即X染色体短臂p22.2-p22.33区域(2Mb-12Mb)存在片段大小约10Mb的重复,长臂q22.3-q28区域(119.5Mb-154Mb)存在片段大小约34.5Mb的缺失。在重复的Xp22.2区域中SHOX和KAL基因,在缺失的Xq22.3-q28区域中PGRMC1、BCORL1、XPNPEP2、AT2、FMR1等基因可能与POF有关。结论 X染色体部分片段的缺失和重复可能与该患者的卵巢早衰临床表型相关。
[Abstract]:Objective to analyze the possible genetic causes of a patient with premature ovarian failure (POF) and to analyze the correlation between chromosome variation and phenotype. Methods the karyotype of peripheral blood chromosomes was analyzed by routine G-banding analysis, and chromosome copy number variation was analyzed by low coverage and high throughput sequencing of the whole genome. Results the chromosomal karyotype of the female patient was 46 Xandel (X) (Q24). The results of low coverage and high throughput sequencing of the whole genome showed that there was 46.XXXXdup (X) (p22.2-p22.33) del (q22.3-q28), that is, the short arm p22.2-p22.33 region of X chromosome (2Mb-12Mb) had a repeat of about 10Mb in size, and the long arm q22.3-q28 region (119.5Mb-154Mb) had a deletion of about 34.5Mb. In the repeated Xp22.2 region, SHOX and KAL genes may be related to POF in the deleted Xq22.3-q28 region. Conclusion the deletion and repetition of X chromosome may be related to the clinical phenotype of premature ovarian failure.
【作者单位】：江苏省淮安市妇幼保健院临床遗传学产前诊断重点实验室;
【基金】：江苏省卫生厅妇幼保健科研项目(F201214) 江苏省“333工程”科研项目(BRA2014132) 淮安市科技创新载体平台建设计划资助项目(HAP201016)
【分类号】：R711.75;R440

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