SOMATIC MUTATIONS AND CELLULAR-SELECTION IN PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA

被引：144

作者：

BESSLER, M ^{[1
]}

MASON, P ^{[1
]}

HILLMEN, P ^{[1
]}

LUZZATTO, L ^{[1
]}

机构：

[1] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,MRC,LRF LEUKAEMIA UNIT,LONDON,ENGLAND

来源：

LANCET | 1994年 / 343卷 / 8903期

基金：

英国惠康基金;

关键词：

D O I：

10.1016/S0140-6736(94)90068-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Patients with paroxysmal nocturnal haemoglobinuria (PNH) have in their blood two red-cell populations, one normal and one deficient in proteins anchored to the membrane through a glycan phosphatidylinositol (GPI) structure. The PNH abnormality is due to a somatic mutation in the PIG-A gene, whose product is required for an early step in GPI anchor biosynthesis. We show that in two patients, two PNH clones with different mutations co-exist, and must therefore have arisen independently. This finding supports the concept that PNH develops under the pressures of a positive selection mechanism whereby GPI-anchor-deficient haemopoietic cells have a survival advantage.

引用

页码：951 / 953

页数：3

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