巴西东北部近交分析及相关缺陷估计。

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2021-04-01 eCollection Date: 2022-12-01 DOI:10.1055/s-0041-1725977
Cristian Rodrigues do Nascimento, Dyowani Dos Santos Basílio, Johnnatas Mikael Lopes, Isaac Farias Cansanção
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引用次数: 0

摘要

本横断面研究旨在观察旧金山谷市亲属之间的婚姻数量以及亲属程度与遗传疾病易感性之间的相关性。在5个城市采访了309对近亲夫妇。使用SPSS (version 22)、卡方检验和广义估计方程(GEE)对数据进行分析。在Pariconha-AL表兄妹中,结果显示残疾儿童的数量明显高于表兄妹(p χ 2 = 19.203, d f = 4, p = 0.001)。在Glória-BA (χ 2 = 11.652, d f = 3, p = 0.020)和OlhoD'água do Casado-AL (χ 2 = 8.123, d f = 4, p = 0.044)等城市,一级表兄妹结合的儿童身体残疾的发生率也显著高于其他亲属关系。一级表兄妹中视力障碍发生率高于Glória-BA (χ 2 = 14.206, d f = 3 p = 0.007);但在三度表亲中,Santa市Brígida-BA的视力障碍更为普遍(χ 2 = 6.416, d f = 2 p = 0.040)。在被评估的城市中发现,近亲繁殖强化了遗传疾病发生的假设。
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Analyzing Inbreeding and Estimating Its Related Deficiencies in Northeastern Brazil.

This cross-sectional study aimed to observe number of marriages between relatives in São Francisco Valley municipalities and correlations between degrees of kinship and susceptibility to genetic diseases. Three hundred and nine (309) consanguineous couples were interviewed in five municipalities. The data were analyzed using SPSS (version 22), Chi-square testing, and the generalized estimating equation (GEE). In Pariconha-AL for first cousins, the results revealed significantly higher numbers of disabled children than for third cousins ( p  < 0.05). Of these, the prevalence for physical disability was significant ( χ 2 = 19.203, d f  = 4, p  = 0.001). In the cities of Glória-BA ( χ 2 = 11.652, d f  = 3, p  = 0.020) and OlhoD'água do Casado-AL ( χ 2 = 8.123, d f  = 4, p  = 0.044), physical disabilities were also significantly higher in children from unions of first-degree cousins than for other degrees of kinship. Visual impairment was more significant in first-degree cousins in Glória-BA ( χ 2 = 14.206, d f  = 3 p  = 0.007); yet among third-degree cousins, visual impairment in the municipality of Santa Brígida-BA was more prevalent ( χ 2 = 6.416, d f  = 2 p  = 0.040). Inbreeding, as revealed in the evaluated cities, reinforces the hypothesis for developing genetic diseases.

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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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