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[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou, W; Fu, X; Xie, X; Zhang, C; Bian, J; Mao, X; Wen, J; Luo, C; Jin, H; Zhu, Q; Qi, Q; Qian, Y; Yuan, J; Zhao, Y; Yin, A; Li, S; Jiang, Y; Zhang, M; Xiao, R; Lu, Y.
Afiliación
  • Hou W; Medical School of Chinese People's Liberation Army, Beijing 100853, China.
  • Fu X; Medical School of Chinese People's Liberation Army, Beijing 100853, China.
  • Xie X; Department of Gynecology and Obstetrics, First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.
  • Zhang C; Medical Innovation Research Division, Chinese PLA General Hospital, Beijing 100853, China.
  • Bian J; Zhejiang Biosan Biochemical Technologies Co. Ltd, Hangzhou 310058, China.
  • Mao X; Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410008, China.
  • Wen J; Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410083, China.
  • Luo C; Center for Medical Genetics, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210011, China.
  • Jin H; Department of Obstetrics and Gynecology, Jinan Maternity and Child Care Hospital, Jinan 250000, China.
  • Zhu Q; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
  • Qi Q; Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Qian Y; Department of Reproductive Genetics, Women's Hospital, School of Medicine Zhejiang University, Hangzhou 311215, China.
  • Yuan J; Center for Prenatal Diagnosis, First Affiliated Hospital of Anhui Medical University, Hefei 230022, China.
  • Zhao Y; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang 110004, China.
  • Yin A; Department of Gynecology and Obstetrics, Nanfang Hospital of Southern Medical University, Guangzhou 510515, China.
  • Li S; Office of Standardized Training of Residents, First Affiliated Hospital of Hebei North University, Zhangjiakou 075061, China.
  • Jiang Y; Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Zhang M; Medical Innovation Research Division, Chinese PLA General Hospital, Beijing 100853, China.
  • Xiao R; Zhejiang Biosan Biochemical Technologies Co. Ltd, Hangzhou 310058, China.
  • Lu Y; Department of Gynecology and Obstetrics, Seventh Medical Center of PLA General Hospital, Beijing 100010, China.
Nan Fang Yi Ke Da Xue Xue Bao ; 44(6): 1015-1023, 2024 Jun 20.
Article en Zh | MEDLINE | ID: mdl-38977330
ABSTRACT

OBJECTIVE:

To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale, multicenter carrier screening.

METHODS:

This study was conducted among a total of 33 104 participants (16 610 females) from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.

RESULTS:

The overall combined carrier frequency was 55.58% for 197 autosomal genes and 1.84% for 26 X-linked genes in these participants.Among the 16 669 families, 874 at-risk couples (5.24%) were identified.Specifically, 584 couples (3.50%) were at risk for autosomal genes, 306(1.84%) for X-linked genes, and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A, 393 couples), HBA1/HBA2(α-thalassemia, 36 couples), PAH (phenylketonuria, 14 couples), and SMN1(spinal muscular atrophy, 14 couples).The most frequently detected X-linked at-risk genes were G6PD (G6PD deficiency, 236 couples), DMD (Duchenne muscular dystrophy, 23 couples), and FMR1(fragile X syndrome, 17 couples).After excluding GJB2 c.109G>A, the detection rate of at-risk couples was 3.91%(651/16 669), which was lowered to 1.72%(287/16 669) after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95% of at-risk couples, while screening for the top 54 genes further increased the detection rate to over 99%.

CONCLUSION:

This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing, genetic counseling for specific genes or gene variants can be challenging, and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pueblo Asiatico / Tamización de Portadores Genéticos Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: Zh Revista: Nan Fang Yi Ke Da Xue Xue Bao Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: China
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pueblo Asiatico / Tamización de Portadores Genéticos Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: Zh Revista: Nan Fang Yi Ke Da Xue Xue Bao Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: China