原發(fā)性免疫缺陷病的臨床特征和分子特點(diǎn)分析
發(fā)布時(shí)間：2021-04-02 01:23
第一部分24例Wiskott-Aldrich綜合征臨床特征與分子特點(diǎn)分析目的:探討來(lái)自中國(guó)23個(gè)不同家系的24例Wiskott-Aldrich綜合征患兒的臨床特征及分子特點(diǎn)。方法:2007年4月～2009年7月收集在重慶醫(yī)科大學(xué)附屬兒童醫(yī)院治療的24例疑診Wiskott-Aldrich綜合征患兒外周靜脈血,采用流式細(xì)胞術(shù)（FCM）檢測(cè)患兒外周血單個(gè)核細(xì)胞（PBMC）中WASP表達(dá)。掃描電鏡觀察患兒外周血淋巴細(xì)胞形態(tài)。PCR擴(kuò)增WASP基因序列并直接雙向測(cè)序分析24例患兒及親屬基因突變情況。總結(jié)確診WAS患兒的臨床資料。結(jié)果:24例患兒均為男性,具有典型WAS的臨床特征。其中2例發(fā)生自身免疫性溶血性貧血（AIHA）,1例患視網(wǎng)膜母細(xì)胞瘤（RB）。5例淋巴細(xì)胞掃描電鏡（SEM）檢查可見(jiàn)典型微絨毛異常。21例患兒采用FCM檢測(cè)外周血PBMC的WASP表達(dá),18例患兒WASP不表達(dá),3例WASP部分表達(dá)。WASP基因分析在23例患兒中發(fā)現(xiàn)20種不同突變,包括錯(cuò)義突變5例,無(wú)義突變4例,缺失突變4例,插入突變3例,拼接位點(diǎn)突變6例,復(fù)合突變1例。其中新型突變7例。突變分布于WASP基因7個(gè)外顯子...
【文章來(lái)源】：重慶醫(yī)科大學(xué)重慶市
【文章頁(yè)數(shù)】：116 頁(yè)
【學(xué)位級(jí)別】：博士
【部分圖文】：
Wiskott-Aldrich綜合征電鏡掃描淋巴細(xì)胞結(jié)果
圖 1. 21 例 Wiskott-Aldrich 綜合征患兒流式細(xì)胞儀檢測(cè) WASP 表達(dá)結(jié)果Figure 1. Flow cytometry detection of Wiskott-Aldrich syndrome protein expression(a) Normal control; (b) 18 cases showed no or minimal WASP expression, namelyWASP-negative; (c , d, e) Three cases（P11, P15, P21）showed partial WASP expression.
圖 3. 7 例 WASP 基因新型突變Figure 3. Novel WASP gene mutations in seven patient with Wiskott-Aldrich syndromeA. Transversion of C to A at position 168 was detected in exon 2 in case 4B. A thymine was deleted at position 747-748 in exon 7 in case 9C. A cytosine was deleted between position 793 and 797 in exon 8 in case 12D. A cytosine was inserted between position 1183 and 1185 in exon 10 in case 13E. A complex mutation in exon 10 in case 15, including a transversion of C to G at position 1266and a deletion of cytosine between position 1267 and 1269F. An adenine was inserted between position 1276 and 1277 in exon 10 in case 16G. A duplication mutation at position 1251-1267 in exon 10 in case 14
【參考文獻(xiàn)】：
期刊論文
[1]Wiskott-Aldrich綜合征臨床和遺傳學(xué)診斷:附9例報(bào)告[J]. 蔣利萍,陳冠榮,劉筱梅,唐雪梅,憲瑩,劉宇隆,楊錫強(qiáng). 臨床兒科雜志. 2004(09)
[2]原發(fā)性免疫缺陷病的歷史、現(xiàn)狀和展望[J]. 楊錫強(qiáng). 中華兒科雜志. 2004(08)
[3]兩種新型Wiskott-Aldrich綜合征蛋白基因突變的鑒定[J]. 蔣利萍,徐酉華,楊錫強(qiáng),劉恩梅,王莉佳,劉宇隆,陳冠榮. 中華兒科雜志. 2003(08)
[4]Omenn綜合征一例[J]. 趙曉東,李秋,王墨,李永柏,岳麗琴. 中華兒科雜志. 2001(01)
本文編號(hào)：3114323
【文章來(lái)源】：重慶醫(yī)科大學(xué)重慶市
【文章頁(yè)數(shù)】：116 頁(yè)
【學(xué)位級(jí)別】：博士
【部分圖文】：
Wiskott-Aldrich綜合征電鏡掃描淋巴細(xì)胞結(jié)果
圖 1. 21 例 Wiskott-Aldrich 綜合征患兒流式細(xì)胞儀檢測(cè) WASP 表達(dá)結(jié)果Figure 1. Flow cytometry detection of Wiskott-Aldrich syndrome protein expression(a) Normal control; (b) 18 cases showed no or minimal WASP expression, namelyWASP-negative; (c , d, e) Three cases（P11, P15, P21）showed partial WASP expression.
圖 3. 7 例 WASP 基因新型突變Figure 3. Novel WASP gene mutations in seven patient with Wiskott-Aldrich syndromeA. Transversion of C to A at position 168 was detected in exon 2 in case 4B. A thymine was deleted at position 747-748 in exon 7 in case 9C. A cytosine was deleted between position 793 and 797 in exon 8 in case 12D. A cytosine was inserted between position 1183 and 1185 in exon 10 in case 13E. A complex mutation in exon 10 in case 15, including a transversion of C to G at position 1266and a deletion of cytosine between position 1267 and 1269F. An adenine was inserted between position 1276 and 1277 in exon 10 in case 16G. A duplication mutation at position 1251-1267 in exon 10 in case 14
【參考文獻(xiàn)】：
期刊論文
[1]Wiskott-Aldrich綜合征臨床和遺傳學(xué)診斷:附9例報(bào)告[J]. 蔣利萍,陳冠榮,劉筱梅,唐雪梅,憲瑩,劉宇隆,楊錫強(qiáng). 臨床兒科雜志. 2004(09)
[2]原發(fā)性免疫缺陷病的歷史、現(xiàn)狀和展望[J]. 楊錫強(qiáng). 中華兒科雜志. 2004(08)
[3]兩種新型Wiskott-Aldrich綜合征蛋白基因突變的鑒定[J]. 蔣利萍,徐酉華,楊錫強(qiáng),劉恩梅,王莉佳,劉宇隆,陳冠榮. 中華兒科雜志. 2003(08)
[4]Omenn綜合征一例[J]. 趙曉東,李秋,王墨,李永柏,岳麗琴. 中華兒科雜志. 2001(01)
本文編號(hào)：3114323
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