国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2014年
5期
209-215
,共7页
赵玉霞%李克秋%景亚青%何晓波%李光
趙玉霞%李剋鞦%景亞青%何曉波%李光
조옥하%리극추%경아청%하효파%리광
克氏综合征%表达谱%RNA-seq
剋氏綜閤徵%錶達譜%RNA-seq
극씨종합정%표체보%RNA-seq
Klinefelter syndrome%Expression profiles%RNA-seq
目的 对克氏综合征(Klinefelter syndrome)患者进行基因表达谱分析,探讨其基因差异表达与临床表型之间的关系.方法 采用第二代高通量测序方法对7例克氏综合征患者和7例对照男性外周血全基因组mRNA进行深度测序,运用定量RT-PCR方法对30例克氏综合征患者及30例对照男性进行验证.结果 测序结果根据FDR≤0.001和| log2 Ratio≥1 |的标准,两组比较存在差异表达基因216个,差异具有统计学意义.其中X染色体基因9个,占4％,与X染色体失活相关的XIST差异表达最明显;常染色体基因207个,占96％,其中NR4A3、ZKSCAN4、HBEGF、EREG、AREG、NR4A2、CCR5差异表达明显.NR4A3主要.与2型糖尿病有关,HBEGF主要参与促性腺激素分泌过程.Y染色体不存在显著差异表达基因.结论 克氏综合征患者不仅多余X染色体基因差异表达,还有大量常染色体基因差异表达,这可能是克氏综合征临床表型多样化的原因.
目的 對剋氏綜閤徵(Klinefelter syndrome)患者進行基因錶達譜分析,探討其基因差異錶達與臨床錶型之間的關繫.方法 採用第二代高通量測序方法對7例剋氏綜閤徵患者和7例對照男性外週血全基因組mRNA進行深度測序,運用定量RT-PCR方法對30例剋氏綜閤徵患者及30例對照男性進行驗證.結果 測序結果根據FDR≤0.001和| log2 Ratio≥1 |的標準,兩組比較存在差異錶達基因216箇,差異具有統計學意義.其中X染色體基因9箇,佔4％,與X染色體失活相關的XIST差異錶達最明顯;常染色體基因207箇,佔96％,其中NR4A3、ZKSCAN4、HBEGF、EREG、AREG、NR4A2、CCR5差異錶達明顯.NR4A3主要.與2型糖尿病有關,HBEGF主要參與促性腺激素分泌過程.Y染色體不存在顯著差異錶達基因.結論 剋氏綜閤徵患者不僅多餘X染色體基因差異錶達,還有大量常染色體基因差異錶達,這可能是剋氏綜閤徵臨床錶型多樣化的原因.
목적 대극씨종합정(Klinefelter syndrome)환자진행기인표체보분석,탐토기기인차이표체여림상표형지간적관계.방법 채용제이대고통량측서방법대7례극씨종합정환자화7례대조남성외주혈전기인조mRNA진행심도측서,운용정량RT-PCR방법대30례극씨종합정환자급30례대조남성진행험증.결과 측서결과근거FDR≤0.001화| log2 Ratio≥1 |적표준,량조비교존재차이표체기인216개,차이구유통계학의의.기중X염색체기인9개,점4％,여X염색체실활상관적XIST차이표체최명현;상염색체기인207개,점96％,기중NR4A3、ZKSCAN4、HBEGF、EREG、AREG、NR4A2、CCR5차이표체명현.NR4A3주요.여2형당뇨병유관,HBEGF주요삼여촉성선격소분비과정.Y염색체불존재현저차이표체기인.결론 극씨종합정환자불부다여X염색체기인차이표체,환유대량상염색체기인차이표체,저가능시극씨종합정림상표형다양화적원인.
Objective In our study,we measured RNA expression level in peripheral blood of Klinefelter's syndrome patients and normal males to investigate the relationship between gene differential expression and the clinical phenotype of Klinefelter's syndrome.Methods.In the present study,total mRNA from seven Klinefelter's syndrome patients and seven normal males were analyzed by RNA-sequencing techniques,differentially expressed genes (DEGs) were partially validated by quantitative reverse transcription PCR (qRT-PCR).Results Based on the filter thresholds of FDR ≤ 0.001 and | log2 Ratio ≥ 1 |,216 differentially expression genes (DEGs) in Klinefelter's syndrome group were detected compared with normal male controls,the difference is statistically significant.There were 9 X chromosome genes (4 ％) in the DEGs.And among them,XIST,a major regulator of the X-chromosome inactivation process; was the most significantly over-expressed gene,the remaining 207 DEGs were autosomal genes (96％).The expression of NR4A3、ZKSCAN4 、HBEGF 、EREG 、AREG 、NR4 A 2、CCR5 show the significant difference.NR4A3 is associated with the type 2 diabetes,HBEGF is mainly involved in gonadotropin secretion process,and no DGE identified from the Y chromosome.Conclusion In addition to the genes on the extra X chromosome,lots of autosomal genes were differentially expressed in Klinefelter's syndrome patients,our findings may explain the reason for the clinical phenotype diversity of Klinefelter's syndrome patients.
