Scholarlink

Objective <p>In China, research on expanded carrier screening (ECS) has exhibited significant inconsistencies due to regional variations, with a lack of large-scale data analysis of the population nationwide. This study aimed to review the carrier rates of monogenic disorders throughout China comprehensively.</p> Methods <p>The study was conducted in two stages, with the carrier rate of monogenic diseases as the primary outcome. In the first stage, 1449 articles were identified, of which 11 were ultimately included for data extraction. In the second stage, all 307 genes identified by the first stage were specifically investigated, and both carrier rates and allele frequencies of pathogenic or likely pathogenic (P/LP) variants were extracted.</p> Results <p>Nineteen genes were associated with monogenic disorders exhibiting carrier frequencies above 1/100, including <i>GJB2</i> (7.78%), <i>HBA1/2</i> (6.19%), <i>PAH</i> (2.76%), <i>ATP7B</i> (2.51%), <i>DUOX2</i> (2.50%), <i>HBB</i> (2.48%), <i>GALC</i> (2.37%), <i>CYP21A2</i> (2.11%), <i>SLC26A4</i> (1.96%), <i>POLG</i> (1.92%), <i>USH2A</i> (1.91%), <i>SLC25A13</i> (1.87%), <i>SLC22A5</i> (1.78%), <i>SMN1</i> (1.75%), <i>MMACHC</i> (1.66%), <i>G6PD</i> (1.38%), <i>GAA</i> (1.05%), <i>UGT1A1</i> (1.02%), and <i>TYR</i> (1.01%). Twenty-seven conditions had carrier rates between 1/100 and 1/200, and thirty had carrier frequencies between 1/200 and 1/400. The ten most common pathogenic/likely pathogenic (P/LP) variants with the highest allele frequencies were: <i>GJB2</i> c.109G&gt;A (7.3%), <i>POLG</i> c.2890C&gt;T (0.94%), <i>GALC</i> c.1901T&gt;C (0.90%), <i>SMN1</i> exon 7 deletion (0.87%), <i>SLC25A13</i> c.2T&gt;C (0.59%), <i>SLC22A5</i> c.1472C&gt;G (0.52%), <i>GJB2</i> c.235del (0.50%), <i>SLC22A5</i> c.1400C&gt;G (0.48%), <i>SLC22A5</i> c.43G&gt;T (0.44%), and <i>SLC25A13</i> c.852_855del (0.43%).</p> Conclusion <p>This review provides the first comprehensive summary of carrier rates for monogenic diseases in the Chinese Han population. It not only describes but also ranks the carrier rates and variant frequencies of related genes, offering critical evidence for the tiered inclusion of gene categories in ECS panels or newborn screening programs.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年3月2日

查看全文
  • Yirong Xia,
  • Yinan Ma

摘要

Objective

In China, research on expanded carrier screening (ECS) has exhibited significant inconsistencies due to regional variations, with a lack of large-scale data analysis of the population nationwide. This study aimed to review the carrier rates of monogenic disorders throughout China comprehensively.

Methods

The study was conducted in two stages, with the carrier rate of monogenic diseases as the primary outcome. In the first stage, 1449 articles were identified, of which 11 were ultimately included for data extraction. In the second stage, all 307 genes identified by the first stage were specifically investigated, and both carrier rates and allele frequencies of pathogenic or likely pathogenic (P/LP) variants were extracted.

Results

Nineteen genes were associated with monogenic disorders exhibiting carrier frequencies above 1/100, including GJB2 (7.78%), HBA1/2 (6.19%), PAH (2.76%), ATP7B (2.51%), DUOX2 (2.50%), HBB (2.48%), GALC (2.37%), CYP21A2 (2.11%), SLC26A4 (1.96%), POLG (1.92%), USH2A (1.91%), SLC25A13 (1.87%), SLC22A5 (1.78%), SMN1 (1.75%), MMACHC (1.66%), G6PD (1.38%), GAA (1.05%), UGT1A1 (1.02%), and TYR (1.01%). Twenty-seven conditions had carrier rates between 1/100 and 1/200, and thirty had carrier frequencies between 1/200 and 1/400. The ten most common pathogenic/likely pathogenic (P/LP) variants with the highest allele frequencies were: GJB2 c.109G>A (7.3%), POLG c.2890C>T (0.94%), GALC c.1901T>C (0.90%), SMN1 exon 7 deletion (0.87%), SLC25A13 c.2T>C (0.59%), SLC22A5 c.1472C>G (0.52%), GJB2 c.235del (0.50%), SLC22A5 c.1400C>G (0.48%), SLC22A5 c.43G>T (0.44%), and SLC25A13 c.852_855del (0.43%).

Conclusion

This review provides the first comprehensive summary of carrier rates for monogenic diseases in the Chinese Han population. It not only describes but also ranks the carrier rates and variant frequencies of related genes, offering critical evidence for the tiered inclusion of gene categories in ECS panels or newborn screening programs.