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对三个患有X连锁淋巴细胞增生性疾病的家族进行的分子遗传单倍型分离研究。

Molecular genetic haplotype segregation studies in three families with X-linked lymphoproliferative disease.

作者信息

Schuster V, Seidenspinner S, Grimm T, Kress W, Zielen S, Bock M, Kreth H W

机构信息

Department of Paediatrics, University of Würzburg, Germany.

出版信息

Eur J Pediatr. 1994 Jun;153(6):432-7. doi: 10.1007/BF01983408.

DOI:10.1007/BF01983408
PMID:7916289
Abstract

Three families with X-linked lymphoproliferative disease were studied. Affected males clinically presented with severe or fatal infectious mononucleosis, acquired hypogammaglobulinaemia, hypergammaglobulinaemia M, and malignant lymphoma including Hodgkin disease. Haplotype analysis using various DNA markers from Xq25-q27 allowed the prediction of the carrier status in females and identification of the XLP status in asymptomatic males.

摘要

对三个患有X连锁淋巴细胞增生性疾病的家族进行了研究。受影响的男性临床上表现为严重或致命的传染性单核细胞增多症、获得性低丙种球蛋白血症、M型高丙种球蛋白血症以及包括霍奇金病在内的恶性淋巴瘤。使用来自Xq25-q27的各种DNA标记进行单倍型分析,可以预测女性的携带者状态,并识别无症状男性的XLP状态。

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Eur J Pediatr. 1994 Jun;153(6):432-7. doi: 10.1007/BF01983408.
2
[X-chromosome recessive lymphoproliferative disease (XLP): molecular genetic studies].
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