Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study.
Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study.
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DOI：
10.5144/0256-4947.2008.169
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发表时间：
2008-05
影响因子：
1.6
通讯作者：
Al Omar AA
中科院分区：
文献类型：
--
作者：
El Mouzan MI;Al Salloum AA;Al Herbish AS;Qurachi MM;Al Omar AA
在沙特阿拉伯，近亲结婚的比例很高;但是，关于近亲结婚与遗传病之间关系的资料却很有限。这项横断面研究的目的是探讨血缘关系在遗传性疾病中的作用。研究样本是通过多阶段概率随机抽样程序确定的。在家庭访问中获得了血缘关系。初级保健医生对所有19岁以下的儿童和青少年进行病史和体格检查，并记录所有遗传性疾病病例。卡方检验用于比较比例。在为期两年的研究期间（2004-2005年），11 874名母亲中有11 554名（97%）回答了有关血亲的问题，11 554名母亲中有6 470名（56%）是血亲。堂表兄妹血缘关系与唐氏综合征之间无显著相关性（P= 0.55）。同样地，与第一堂兄弟血缘关系的镰状细胞病（P= 0.97）或葡萄糖-6-磷酸脱氢酶缺乏症（P= 0.67）没有显著关联。发现主要先天性畸形的边缘统计学显著性（P=.05）。然而，与堂兄弟血缘关系最显著的关联是先天性心脏病（CHD）（P=.01）。最后，未发现与1型糖尿病有显著相关性（P= 0.92）。对于所有类型的血缘关系，发现了类似的关联趋势，仅与CHD有明确的统计学显著关联（P=.003）。这些数据表明，父母的血缘关系在冠心病中的重要作用。然而，血缘关系和其他遗传疾病之间的关系无法确定。血缘关系对遗传病的影响是不一致的，在遗传咨询中应考虑到这一点。
There is a high rate of consanguinity in Saudi Arabia; however, information on its relationship with genetic disorders is limited. The objective of this cross-sectional study was to explore the role of consanguinity in genetic disorders. The study sample was determined by a multistage probability random sampling procedure. Consanguinity status was obtained during household visits. Primary care physicians performed a history and physical examination of all children and adolescents younger than 19 years, and all cases of genetic diseases were recorded. The chi-square test was used to compare proportions. During the two-year study period (2004–2005), 11 554 of 11 874 (97%) mothers answered the question on consanguinity, and 6470 of 11 554 (56%) were consanguineous. There was no significant association between first-cousin consanguinity and Down syndrome (P=.55). Similarly, there was no significant association with either sickle cell disease (P=.97) or glucose-6-phosphate dehydrogenase deficiency (P=.67) for first-cousin consanguinity. A borderline statistical significance was found for major congenital malformations (P=.05). However, the most significant association with first-cousin consanguinity was congenital heart disease (CHD) (P=.01). Finally, no significant association was found for type 1 diabetes mellitus (P=.92). For all types of consanguinity, similar trends of association were found, with a definite statistically significant association only with CHD (P=.003). The data suggest a significant role of parental consanguinity in CHD. However, a relationship between consanguinity and other genetic diseases could not be established. The effect of consanguinity on genetic diseases is not uniform and this should be taken into consideration in genetic counseling.
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影响因子：
1.5
作者：
Bener, A;Alali, KA
通讯作者：
Alali, KA
影响因子：
4
作者：
ELHAZMI, MAF;ALSWAILEM, AR;ALMESHARI, AA
通讯作者：
ALMESHARI, AA
影响因子：
1.8
作者：
NIAZI, MA;ALMAZYAD, AS;ALEISSA, YA
通讯作者：
ALEISSA, YA
DOI：
10.1002/ajmg.1320430502
发表时间：
1992-07-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
KHOURY, SA;MASSAD, D
通讯作者：
MASSAD, D
影响因子：
4
作者：
ALGAZALI, LI;DAWODU, AH;VARGHESE, M
通讯作者：
VARGHESE, M