本文選題：卵巢早衰 + 缺失��； 參考：《中國優(yōu)生與遺傳雜志》2016年12期

【摘要】：目的分析一名卵巢早衰(POF)患者可能的致病遺傳學(xué)原因,分析其染色體變異與表型的相關(guān)性。方法應(yīng)用常規(guī)G顯帶分析患者外周血染色體核型,再應(yīng)用全基因組低覆蓋度高通量測序技術(shù)進行染色體拷貝數(shù)變異分析。結(jié)果該女性患者的染色體核型為46,X,del(X)(q24),全基因組低覆蓋度高通量測序結(jié)果顯示為46,XX,dup(X)(p22.2-p22.33),del(q22.3-q28),即X染色體短臂p22.2-p22.33區(qū)域(2Mb-12Mb)存在片段大小約10Mb的重復(fù),長臂q22.3-q28區(qū)域(119.5Mb-154Mb)存在片段大小約34.5Mb的缺失。在重復(fù)的Xp22.2區(qū)域中SHOX和KAL基因,在缺失的Xq22.3-q28區(qū)域中PGRMC1、BCORL1、XPNPEP2、AT2、FMR1等基因可能與POF有關(guān)。結(jié)論 X染色體部分片段的缺失和重復(fù)可能與該患者的卵巢早衰臨床表型相關(guān)。
[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.
【作者單位】： 江蘇省淮安市婦幼保健院臨床遺傳學(xué)產(chǎn)前診斷重點實驗室;
【基金】：江蘇省衛(wèi)生廳婦幼保健科研項目(F201214) 江蘇省“333工程”科研項目(BRA2014132) 淮安市科技創(chuàng)新載體平臺建設(shè)計劃資助項目(HAP201016)
【分類號】：R711.75;R440

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本文編號：2109302