PARTIAL XQ25 DELETION IN A FAMILY WITH THE X-LINKED LYMPHOPROLIFERATIVE DISEASE (XLP)

被引：42

作者：

SANGER, WG

GRIERSON, HL

SKARE, J

WYANDT, H

PIRRUCCELLO, S

FORDYCE, R

PURTILO, DT

机构：

[1] UNIV NEBRASKA,MED CTR,DEPT MICROBIOL,OMAHA,NE 68105

[2] BOSTON UNIV,SCH MED,CTR HUMAN GENET,BOSTON,MA 02118

[3] UNIV NEBRASKA,MED CTR,EPPLEY INST RES CANC,OMAHA,NE 68105

[4] UNIV NEBRASKA,MED CTR,DEPT PEDIAT,OMAHA,NE 68105

[5] UNIV NEBRASKA,MED CTR,DEPT PATHOL,OMAHA,NE 68105

来源：

CANCER GENETICS AND CYTOGENETICS | 1990年 / 47卷 / 02期

关键词：

D O I：

10.1016/0165-4608(90)90026-7

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

X-linked lymphoproliferative disease (XLP) results in exquisite vulnerability to EBV infection: fatal infectious mononucleosis (IM), acquired hypogammaglobulinemia and/or malignant lymphoma occur invariably following infection with the virus. We have identified the XLP locus using the DXS42 DNA probe having restriction length polymorphisms (RFLP). We report an interstitial deletion involving a portion of the Xq25 region in the X chromosome of an affected male, one sister, and their mother. Concordance has been established between the presence of a deletion and RFLP linkage analysis with the DXS42 probe in the kindred. This finding will contribute substantially to the mapping, cloning, and sequencing of the gene responsible for XLP. © 1990.

引用

页码：163 / 169

页数：7

共 27 条

[1] CHROMOSOMAL BREAKAGE AND SISTER CHROMATID EXCHANGE IN PERIPHERAL-BLOOD LYMPHOCYTES AND LYMPHOBLASTOID CELL-LINES IN THE X-LINKED LYMPHOPROLIFERATIVE SYNDROME [J].