• 主题
高级搜索  >
历史搜索 清空历史
首页> 美国卫生研究院文献>Genetics and Molecular Biology >Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders
【2h】

Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders

机译：巴西东北部的近交水平：探寻新遗传疾病的策略

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of “deficiencies” (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders.
机译：最近在巴西东北里奥格兰德州的一个偏远地区发现了一种新的常染色体隐性遗传疾病，即SPOAN综合征（痉挛性截瘫，视神经萎缩和神经病综合征的缩写），该人群由IBGE（巴西地理与统计研究所）属于“缺陷”发生率最高的巴西社区（Neri，2003年），该术语通常用于描述疾病，畸形和残障。这促使我们通过直接采访居民中的五个居民来研究其血缘水平。获得了关于7,639对夫妇的信息（约占研究地区总人口的40％）。该研究揭示了近亲结婚的频率很高，从大约9％到32％不等，这表明遗传疾病之间存在直接的关联，例如SPOAN综合征，遗传漂移和近亲繁殖水平。这一事实要求引入针对当地人群的教育计划，并进行旨在识别和表征其他遗传条件的进一步研究。在该地区现有的卫生系统的合作下，为收集近交数据而制定的流行病学策略在发现遗传疾病方面可能非常成功。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号