原发性免疫缺陷病的临床特征和分子特点分析
发布时间：2021-04-02 01:23
第一部分24例Wiskott-Aldrich综合征临床特征与分子特点分析目的:探讨来自中国23个不同家系的24例Wiskott-Aldrich综合征患儿的临床特征及分子特点。方法:2007年4月～2009年7月收集在重庆医科大学附属儿童医院治疗的24例疑诊Wiskott-Aldrich综合征患儿外周静脉血,采用流式细胞术（FCM）检测患儿外周血单个核细胞（PBMC）中WASP表达。扫描电镜观察患儿外周血淋巴细胞形态。PCR扩增WASP基因序列并直接双向测序分析24例患儿及亲属基因突变情况。总结确诊WAS患儿的临床资料。结果:24例患儿均为男性,具有典型WAS的临床特征。其中2例发生自身免疫性溶血性贫血（AIHA）,1例患视网膜母细胞瘤（RB）。5例淋巴细胞扫描电镜（SEM）检查可见典型微绒毛异常。21例患儿采用FCM检测外周血PBMC的WASP表达,18例患儿WASP不表达,3例WASP部分表达。WASP基因分析在23例患儿中发现20种不同突变,包括错义突变5例,无义突变4例,缺失突变4例,插入突变3例,拼接位点突变6例,复合突变1例。其中新型突变7例。突变分布于WASP基因7个外显子...
【文章来源】：重庆医科大学重庆市
【文章页数】：116 页
【学位级别】：博士
【部分图文】：
Wiskott-Aldrich综合征电镜扫描淋巴细胞结果
图 1. 21 例 Wiskott-Aldrich 综合征患儿流式细胞仪检测 WASP 表达结果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.
图 3. 7 例 WASP 基因新型突变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
【参考文献】：
期刊论文
[1]Wiskott-Aldrich综合征临床和遗传学诊断:附9例报告[J]. 蒋利萍,陈冠荣,刘筱梅,唐雪梅,宪莹,刘宇隆,杨锡强. 临床儿科杂志. 2004(09)
[2]原发性免疫缺陷病的历史、现状和展望[J]. 杨锡强. 中华儿科杂志. 2004(08)
[3]两种新型Wiskott-Aldrich综合征蛋白基因突变的鉴定[J]. 蒋利萍,徐酉华,杨锡强,刘恩梅,王莉佳,刘宇隆,陈冠荣. 中华儿科杂志. 2003(08)
[4]Omenn综合征一例[J]. 赵晓东,李秋,王墨,李永柏,岳丽琴. 中华儿科杂志. 2001(01)
本文编号：3114323
【文章来源】：重庆医科大学重庆市
【文章页数】：116 页
【学位级别】：博士
【部分图文】：
Wiskott-Aldrich综合征电镜扫描淋巴细胞结果
图 1. 21 例 Wiskott-Aldrich 综合征患儿流式细胞仪检测 WASP 表达结果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.
图 3. 7 例 WASP 基因新型突变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
【参考文献】：
期刊论文
[1]Wiskott-Aldrich综合征临床和遗传学诊断:附9例报告[J]. 蒋利萍,陈冠荣,刘筱梅,唐雪梅,宪莹,刘宇隆,杨锡强. 临床儿科杂志. 2004(09)
[2]原发性免疫缺陷病的历史、现状和展望[J]. 杨锡强. 中华儿科杂志. 2004(08)
[3]两种新型Wiskott-Aldrich综合征蛋白基因突变的鉴定[J]. 蒋利萍,徐酉华,杨锡强,刘恩梅,王莉佳,刘宇隆,陈冠荣. 中华儿科杂志. 2003(08)
[4]Omenn综合征一例[J]. 赵晓东,李秋,王墨,李永柏,岳丽琴. 中华儿科杂志. 2001(01)
本文编号：3114323
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