改善了对42个Y染色体短串重复的序列多态的理解,用于中国汉族人群
Lei Miao1, Shuang Liu2, Kun-Peng Pan2
1Key Laboratory of Forensic Genetics of Ministry of Public Security, Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China; School of Forensic Medicine, Kunming Medical University, Kunming 650500, China.
Forensic science international. Genetics
|November 27, 2024
概括
这项研究详细介绍了331名中国汉族男性中42个Y染色体短并列重复 (Y-STR) 的序列变异. 它识别了新的序列等位基因,并为法医遗传学和人类学应用提供了关键数据.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 法医科学 法医科学 法医科学
- 分子人类学分子人类学
背景情况:
- 在人群研究中,Y染色体短串重复 (Y-STR) 是重要的遗传标记.
- 现有的Y-STR研究主要集中在长度变化上,忽视了基于序列的变化.
- 在中国人群中基于序列的Y-STR特征尚未得到充分研究.
研究的目的:
- 在中国汉族人群中全面分析42个Y-STR位点的基于序列的变异.
- 为了识别新的序列等位基因和表征重复模式变异.
- 将Y-STR序列数据与美国人口进行比较,以获得人类学见解.
主要方法:
- 在331名汉族男性中对42个Y-STR位点进行了有针对性的测序.
- 对序列变化的分析,包括单核酸替代和插入/删除事件.
- 将已识别的Y-STR序列数据与现有数据库和其他群体进行比较.
主要成果:
- 在中国汉族人群中发现了387种不同的序列等位基因类型及其频率.
- 在七个Y-STR位置中识别重复模式变化.
- 检测了46个单核酸替代和indel变异,包括13个新突变和27个以前未报告的基于序列的等位基因.
结论:
- 这项研究提供了42个Y-STR在中国汉族人口中的序列特征的详细表征.
- 这些发现提高了对Y-STR多样性的理解,并为法医和人类学应用提供了必要的序列变异数据.
- 基于序列的分析揭示了中国汉族和美国人口之间的特定人群Y-STR差异.
相关概念视频
Single Nucleotide Polymorphisms-SNPs
14.0K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.0K
Comparing Copy Number Variations and SNPs
17.3K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.3K
The Y Chromosome Determines Maleness
6.5K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.5K
X and Y Chromosomes
22.2K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
22.2K
Karyotyping
58.0K
Overview
58.0K
Conservative Site-specific Recombination and Phase Variation
5.9K
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
The recognition sites for Cre recombinase called LoxP...
5.9K


