Jaber L, Merlob P, Shohat M
Department of Medical Genetics, Neonatology and Pediatrics, Felsenstein Research Institute, Beilinson Medical Center, Petah Tiqva, Israel.
Biomed Pharmacother. 1994;48(8-9):351-4. doi: 10.1016/0753-3322(94)90050-7.
It is common among Israeli Arabs who live in villages to prefer consanguineous marriages, particularly among first cousins. In addition, such villages are populated by a few (< 20) original families, and inter-family/inter-village marriages are infrequent. The purpose of this study was to examine the incidence of congenital malformation of the central nervous system associated with such "consanguinity" in Taibe, a large Arab village, 30 km from Tel Aviv. Six hundred and ten families were prospectively ascertained through infants who were routinely seen in the local "Well Baby Clinics". A significant increase in the incidence of major malformations was noted in relation to the closeness of the parental relationship. For the index cases group, the prevalence of individuals with major malformations was 5.8% in the product of inter-village marriages, 8.3% in the intra-village non-related matings, 15.1% in the distant consanguineous group, and up to 15.8% in the progeny of first-cousin marriages (P < 0.001). Malformations of the central nervous system consisted of 1/3 to 1/2 of the total malformations in the consanguineous group versus less than 1/5 in the non-consanguineous groups. The study demonstrates a marked high rate of consanguineous marriages, the effect of which leads to a marked increase in major malformations and especially those of the central nervous system. This requires a unique genetic counseling approach.
居住在村庄里的以色列阿拉伯人普遍倾向于近亲结婚，尤其是表亲之间。此外，这些村庄由少数（不到20个）原生家庭组成，家庭间/村庄间的婚姻很少见。本研究的目的是调查距离特拉维夫30公里的一个大型阿拉伯村庄泰贝因这种“近亲关系”而导致的中枢神经系统先天性畸形的发生率。通过在当地“健康婴儿诊所”定期就诊的婴儿前瞻性确定了610个家庭。与父母关系的亲近程度相关，主要畸形的发生率显著增加。对于索引病例组，村庄间婚姻后代中主要畸形个体的患病率为5.8%，村庄内非近亲交配的为8.3%，远亲近亲组为15.1%，表亲婚姻后代高达15.8%（P<0.001）。近亲组中枢神经系统畸形占总畸形的1/3至1/2，而非近亲组则不到1/5。该研究表明近亲结婚率显著较高，其影响导致主要畸形尤其是中枢神经系统畸形显著增加。这需要一种独特的遗传咨询方法。
