High prevalence of complement C7 deficiency among healthy blood donors of Moroccan Jewish ancestry

被引:16
作者
Halle, D
Elstein, D
Geudalia, D
Sasson, A
Shinar, E
Schlesinger, M
Zimran, A
机构
[1] Shaare Zedek Med Ctr, Gaucher Clin, IL-91031 Jerusalem, Israel
[2] Natl Blood Bank Israel, Ramat Gan, Israel
[3] Barzilai Govt Hosp, Ashkelon, Israel
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 99卷 / 04期
关键词
complement deficiency; C7; C8; Moroccan Jews;
D O I
10.1002/ajmg.1183
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The incidence of the specific component deficiencies in various ethnic groups is not known, although there appears to be an ethnic predilection for C6 and C8 alpha-gamma deficiencies in blacks, whereas C7 and C8 beta deficiencies are predominantly noted in Caucasians. Infectious diseases, particularly recurrent meningococcal infections, are observed more commonly with late component deficiencies. In the current study, we have simplified the PCR technique by using site-directed mutagenesis and designer primers in a cohort of Israeli Moroccan Jewish blood donors to ascertain allele frequency in this ethnic group, which, based on earlier studies, was considered to be at risk for C7 deficiency. The total mutant allele frequency in this ethnic cohort was 1.1% of a total of 365 healthy Israeli Moroccan Jews, including one homozygote. The identification of mutant alleles was efficient and inexpensive, and hence a large cohort was studied. The finding of complement deficiency identifies individuals at risk for Neisserial infections, which are known to be potentially life-threatening, Conversely, when a patient of Moroccan ancestry is diagnosed with a Neisserial infection, it is important to determine the complement status. (C) 2001 Wiley-Liss, Inc.
引用
收藏
页码:325 / 327
页数:3
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