Gene spectrum analysis of thalassemia for people residing in northern China

BMC Medical Genetics

Zhuo Yang¹  Ling Qiu¹  Bing Han²  Wenzhe Zhou³  Quexuan Cui³ 

[1] 0000 0001 0662 3178, grid.12527.33, Department of clinical laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, China;0000 0001 0662 3178, grid.12527.33, Department of hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, China;0000 0001 0662 3178, grid.12527.33, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, China;

关键词: Thalassemia;    Gene mutation;    Spectrum;    Altitude;    China;   

DOI  :  10.1186/s12881-019-0818-7

来源: publisher

【 摘 要 】

BackgroundSouthern China provinces have high incidence of thalassemia, however, sporadic cases can be found in northern China as well.MethodsPeople resided in north China who were suspected to have thalassemia were detected mutations by gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (RDB) analyses. Those with positive findings from 2012 to 2017 were further analyzed for basic clinical data and ancestral information either by medical records or by telephone follow-up or both.ResultsMost people enrolled in our study had no or mild symptoms. For those with positive gene findings, people originated from the north had higher percentage of β-thalassemia gene mutations compared with those originated from the south (72.8% vs. 62.4%, χ2 = 9.92, P = 0.001). Analysis of the individual gene distribution of people from south and north areas did not show significant difference either in α- thalassemia (P = 0.221) or β-thalassemia (P = 0.979). No significant difference was found in the frequency of α mutation in people living in different altitudes. However, for β-thalassemia, the frequency of the 6 most common mutations was significantly different in people living in different provinces with altitude below 500 m, 500–1000 m, and above 1000 m (χ2 test, P < 0.05).ConclusionMost of people in north China with thalassemia mutation gene were thalassemia carriers. People originated from the north had higher frequency of β mutation than those originated from the south, but the north people had similar individual gene mutation profile compared with south people both for α and β mutations. People lived in different altitudes had different spectrum of β mutations.

【 授权许可】

CC BY