Yaqoob M, Cnattingius S, Jalil F, Zaman S, Iselius L, Gustavson K H
Department of Social and Preventive Paediatrics, King Edward Medical College, Mayo Hospital, Lahore, Pakistan.
Clin Genet. 1998 Nov;54(5):426-34. doi: 10.1111/j.1399-0004.1998.tb03758.x.
Risk factors such as maternal age, parity, previous siblings' death, inbreeding of parents, birth weight, birth length were examined in a population-based prospective study in four population groups at different levels of urbanization in and round Lahore, Pakistan. From September 1984 to March 1995, 2967 full-term, single born infants were followed from the 5th month of gestation to 12 months of age. Logistic regression analysis showed a significant relative risk (RR) of infant death associated with parents' consanguinity (RR = 1.8), birth weight (RR = 1.8) and elder siblings' death (RR = 1.7). The risk attributed to these factors was 28, 17 and 25%, respectively. The number of lethal equivalents per gamete is about one. The B/A ratio 10.36 suggests that the genetic load is likely to be mutational. In countries like Pakistan, where consanguinity is favourably practiced, a substantial proportion of infant deaths may be prevented by cessation of such marriages. The implications of this finding for the Pakistani community are discussed.
在巴基斯坦拉合尔及其周边不同城市化水平的四个群体中开展的一项基于人群的前瞻性研究,对诸如母亲年龄、产次、先前兄弟姐妹的死亡情况、父母近亲结婚、出生体重、出生身长等危险因素进行了调查。从1984年9月至1995年3月,对2967名足月单胎出生的婴儿从妊娠第5个月至12月龄进行了随访。逻辑回归分析显示,与婴儿死亡相关的显著相对风险(RR)与父母近亲结婚(RR = 1.8)、出生体重(RR = 1.8)和年长兄弟姐妹的死亡(RR = 1.7)有关。归因于这些因素的风险分别为28%、17%和25%。每个配子的致死当量数约为1。B/A比值为10.36表明遗传负荷可能是由突变引起的。在像巴基斯坦这样盛行近亲结婚的国家,通过停止此类婚姻,很大一部分婴儿死亡可能会得到预防。本文讨论了这一发现对巴基斯坦社区的影响。