Literature DB >> 11252001

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

D Halle1, D Elstein, D Geudalia, A Sasson, E Shinar, M Schlesinger, A Zimran.   

Abstract

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 C8alpha-gamma deficiencies in blacks, whereas C7 and C8beta 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. Copyright 2001 Wiley-Liss. Inc.

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Year:  2001        PMID: 11252001     DOI: 10.1002/ajmg.1183

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

1.  Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease.

Authors:  C Franco-Jarava; D Comas; A Orren; M Hernández-González; R Colobran
Journal:  Clin Exp Immunol       Date:  2017-04-20       Impact factor: 4.330

Review 2.  Infections of people with complement deficiencies and patients who have undergone splenectomy.

Authors:  Sanjay Ram; Lisa A Lewis; Peter A Rice
Journal:  Clin Microbiol Rev       Date:  2010-10       Impact factor: 26.132

3.  Complement component C7 deficiency in two Spanish families.

Authors:  Sonia Barroso; Berta Sánchez; Antonia José Alvarez; Margarita López-Trascasa; Amparo Lanuza; Rafael Luque; Ingeborg Wichmann; Antonio Núñez-Roldán
Journal:  Immunology       Date:  2004-12       Impact factor: 7.397

4.  Complement component C7 deficiency in a Spanish family.

Authors:  M F Vázquez-Bermúdez; S Barroso; K Walter; A J Alvarez; A Alarcón; M López-Trascasa; I Wichmann; F Aguilar; A Núñez-Roldán; B Sánchez
Journal:  Clin Exp Immunol       Date:  2003-08       Impact factor: 4.330

5.  Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.

Authors:  Chang-Seok Ki; Jong-Won Kim; Hee-Jin Kim; Sung-Min Choi; Gyoung-Yim Ha; Hee Jung Kang; Won-Duck Kim
Journal:  J Korean Med Sci       Date:  2005-04       Impact factor: 2.153

6.  Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families.

Authors:  Hee Jung Kang; Chang-Seok Ki; Yeon-Sook Kim; Mina Hur; So Ick Jang; Ki Sik Min
Journal:  J Clin Immunol       Date:  2006-03-22       Impact factor: 8.317

7.  Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese.

Authors:  Deng-Feng Zhang; Yu Fan; Min Xu; Guihong Wang; Dong Wang; Jin Li; Li-Li Kong; Hejiang Zhou; Rongcan Luo; Rui Bi; Yong Wu; Guo-Dong Li; Ming Li; Xiong-Jian Luo; Hong-Yan Jiang; Liwen Tan; Chunjiu Zhong; Yiru Fang; Chen Zhang; Nengyin Sheng; Tianzi Jiang; Yong-Gang Yao
Journal:  Natl Sci Rev       Date:  2018-11-05       Impact factor: 17.275

8.  Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

Authors:  Carine El Sissy; Jérémie Rosain; Paula Vieira-Martins; Pauline Bordereau; Aurélia Gruber; Magali Devriese; Loïc de Pontual; Muhamed-Kheir Taha; Claire Fieschi; Capucine Picard; Véronique Frémeaux-Bacchi
Journal:  Front Immunol       Date:  2019-08-08       Impact factor: 7.561

Review 9.  Meningococcal disease and the complement system.

Authors:  Lisa A Lewis; Sanjay Ram
Journal:  Virulence       Date:  2013-10-08       Impact factor: 5.882

  9 in total

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