纽约市代表性不足的创始人群体的遗传疾病风险
Mariko Isshiki1, Anthony Griffen2, Paul Meissner3,4
1Department of Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461.
medRxiv : the preprint server for health sciences
|October 14, 2024
概括
在纽约市代表不足的社区中识别创始病原体变体可以改善医疗保健. 这项研究在8个创始人群体中发现了新的破坏性变体,有助于发现罕见疾病和个性化医疗.
科学领域:
- 基因组学就是基因组学.
- 人口遗传学 人口遗传学
- 医学遗传学 医学遗传学
背景情况:
- 在相关群体中普遍存在的创始病原体变异可以提高医疗保健的提供.
- 基因组研究对于了解代表性不足的社区的健康差异至关重要.
研究的目的:
- 在纽约市居民中识别创始人种群和致病变体.
- 评估改善少数群体罕见疾病诊断和医疗保健的潜力.
主要方法:
- 利用来自我们所有人研究计划和西奈山BioMe生物库的25366个人的基因组数据.
- 应用血统认同 (IBD) 分析以识别具有共同祖先的16个群体,定义8个创始人群体.
- 在这些人群中进行了ClinVar致病或可能致病变体的丰富分析.
主要成果:
- 确定了8个创始人群体,包括波多黎各人,加里富纳人和菲律宾/太平洋岛民社区.
- 在8个创始人群中检测到202种致病或可能致病的变体.
- 发现了25种符合Tier 2临床查标准的新型变异 (1/100载体频率),这些变异在这些组中以前没有报告过.
结论:
- 人口结构研究揭示了对影响代表不足的创始人人口的罕见疾病的洞察力.
- 确定的创始人变种提供潜在的医疗保健益处,但需要社区参与,以防止污名化.
- 这项研究强调了将多样化的人口纳入基因组研究的重要性,以实现公平的医疗保健进步.
更多相关视频
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.7K
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
33.7K
相关概念视频
Genetic Lingo
101.5K
Overview
101.5K
Mutation, Gene Flow, and Genetic Drift
58.2K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
58.2K
Incomplete Dominance
21.8K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
21.8K
Genomic Imprinting and Inheritance
34.0K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.0K
Pedigree Analysis
84.0K
Overview
84.0K
What is Population Genetics?
57.7K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
57.7K
