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首页> 外文期刊>Journal of Medical Sciences >Genetic Analysis of Rheumatic Fever among Egyptian Families: Consanguinity Pattern, Segregation Analysis and Blood Group Association
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Genetic Analysis of Rheumatic Fever among Egyptian Families: Consanguinity Pattern, Segregation Analysis and Blood Group Association

机译：埃及家庭风湿热的遗传分析：血缘关系模式，分离分析和血型关联

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To assess genetic background of Rheumatic Fever (RF) among Egyptian families and to test for association to blood group allelic phenotypes. This study was done on 30 Egyptian rheumatic families of which 10 were mutiplex; enrolled from Pediatric Cardiology Clinic, Mansoura University Hospital. Subjects included 30 probands and 1142 relatives of different degrees; they were classified clinically into 46 cases with RF, 136 subjects with recurrent Upper Respiratory Infection (URTI) and/or arthralgia and the remainders were irrelevant. Diagnosis of RF was based on Jones criteria. Pedigree analysis with stress on consanguinity, positive family history of RF and definite recurrent URTI. Nine blood group systems were analyzed for probands including; ABO, Rh, MNS, Kell, Lutheran, Lewis, Kidd, Duffy, P1 and individual secretor status. In rheumatic families consanguinity and inbreeding were higher than control (53.3%, 0.015). Segregation analysis suggested multifactorial inheritance for RF with mean heritability (30%) whereas recurrent URTI followed recessive inheritance. Some alleles and phenotypes were of higher incidence in probands compared to control; alleles se (non-secretor), D, Jka+ and phenotypes Lu (a-b-), Le (a-b-) and Fy (a-b-) were of higher frequency, whereas alleles Se (secretor), A, B, Kp a+, Lu b+, Le b+, Fy a+, Fy b+ and phenotypes Fy (a+ b+), Sese or SeSe (secretor) were less frequent. Based on the inherited susceptibility to respiratory infection, RF is a genetic disease with multifactorial inheritance. Blood group systems on chromosome 19 could mark hot spots for further linkage and gene mapping.
机译：评估埃及家庭中风湿热（RF）的遗传背景，并测试与血型等位基因表型的关联。这项研究是针对30个埃及风湿性家族进行的，其中10个是多重性的。曼苏拉大学医院儿科心脏病诊所就读。受试者包括30个先证者和1142个不同程度的亲戚。他们在临床上被分类为46例RF患者，136例复发的上呼吸道感染（URTI）和/或关节痛患者，其余与患者无关。 RF的诊断基于琼斯标准。血统性，RF阳性家族史和明确复发性URTI的家系分析。分析了九个血型系统的先证者，包括： ABO，Rh，MNS，Kell，路德教会，刘易斯，基德，达菲，P 1 和个体分泌者身份。在风湿病家庭中，近亲血缘和近亲度高于对照组（53.3％，0.015）。隔离分析表明，RF的多因素遗传具有平均遗传性（30％），而复发性URTI则是隐性遗传。与对照组相比，先证者中的一些等位基因和表型发生率更高。等位基因se（非分泌者），D，Jka +和表型Lu（ab-），Le（ab-）和Fy（ab-）的频率较高，而等位基因Se（分泌者），A，B，Kp a +，Lu b +，Le b +，Fy a +，Fy b +和表型Fy（a + b +），Sese或SeSe（分泌者）的频率较低。基于对呼吸道感染的遗传易感性，RF是具有多因素遗传的遗传疾病。 19号染色体上的血型系统可以标记热点，以进一步连锁和进行基因定位。

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