THE CYSTIC-FIBROSIS HETEROZYGOTE - ADVANTAGE IN SURVIVING CHOLERA
THE CYSTIC-FIBROSIS HETEROZYGOTE - ADVANTAGE IN SURVIVING CHOLERA
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DOI：
10.1016/0306-9877(91)90144-n
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发表时间：
1991-11-01
影响因子：
4.7
通讯作者：
ZAMUDIO, S
中科院分区：
文献类型：
--
作者：
RODMAN, DM;ZAMUDIO, S
囊性纤维化（CF）是白种人最常见的致命遗传性疾病。虽然有人假设CF杂合子的优势使该基因获得如此高的患病率，但这种优势的性质仍然是一个谜。最近CF基因的鉴定和测序增加了CF杂合子优势被发现的可能性。在这一假设中，我们审查的信息，这是已知的CF突变的选择和其细胞的后果，并提出证据表明，对霍乱的抗性可能是环境因素，选择CF杂合子在他们的“正常”纯合子队列。未来线的实验和可能的临床适用性治疗分泌性腹泻。
Cystic fibrosis (CF) is the most common fatal genetic disorder of caucasians. While it has been hypothesized that there is a CF heterozygote advantage which allowed the gene to achieve such high prevalence, the nature of that advantage remains a mystery. The recent identification and sequencing of the CF gene has increased the probability that the CF heterozygote advantage will be discovered. In this hypothesis we review the information which is known about the selection of the CF mutation and its cellular consequences, and present evidence which suggests that resistance to cholera may have been the environmental factor which selected CF heterozygotes over their 'normal' homozygote cohort. Future lines of experimentation and possible clinical applicability to therapy of secretory diarrhea are presented.