1.Gene test of RET-proto-oncogene in a Chinese family of multiple endocrine neoplasia type 2
Lilin GONG ; Bo TIAN ; Rong LI ; Zhihong WANG ; Zhengping FENG ; Qingfeng CHENG ; Suhua ZHANG ; Qifu LI
Journal of Endocrine Surgery 2014;(6):482-485
Objective To test the RET-proto-oncogene in a multiple endocrine neoplasia type 2( MEN2) family for confirming the diagnosis and classification , guiding treatment and prevention , and improving the prog-nosis.Methods There were 2 patients of MEN2 with clinical diagnosis and 1 asymptomatic first-degree relative in the pedigree .PCR and direct gene sequencing of PCR produces were used to scan the entire 21 exons of RET-proto-oncogene in the 3 members of the pedigree and 3 normal controls .Results The 2 patients and 1 asympto-matic first-degree relative in the pedigree all had a mutation of the codon 634 in exon 11.It was a heterozygous missense mutation C634R(TGC → CGC).The 3 normal controls showed no abnormalities .Conclusion The gene test of RET proto-oncogene helps to confirm the diagnosis of the pedigree as MEN 2, which can guide the treatment and help identify one asymptomatic mutation carrier .
2.Association of polymorphisms in transcription factor 7-like 2(TCF7L2) gene with type 2 diabetes in Chinese Han population
Zhihong WANG ; Suhua ZHANG ; Zengchan WANG ; Lilin GONG ; Rong LI ; Wei REN ; Ruizhi ZHENG ; Maorong WANG ; Wenlu ZHANG ; Qingfeng CHENG ; Song LIANG ; Xiaoli WAN ; Lanying ZHANG ; Jun HE
Chinese Journal of Endocrinology and Metabolism 2009;25(2):139-143
Objective To study the association of transcription factor 7-like 2(TCF7L2)polymorphisms with tvpe 2 diabetes mellitus in Chinese Han population. Methods Two polymorphisms (rs7903146 and rs12255372)of TCF7L2 gene were genotyped in 446 patients with type 2 diabetes mellitus(T2DM group)and 303 normal subiects (NC group) by PCR-restriction fragment length polymorphism(PCR-RFLP).Waist circumference.body mass index,plasma glucose,serum insulin,lipid profiles,high-sensitivity C-reactive protein and non-esterified fatty acid were measured.Homeostasis model assessment of insulin resistance(HOMA-IR)and β-cell function(HOMA-β)were calculated.Results (1) In T2DM group,T allele frequency and CT,TY geno tvpe frequeneies of rs7903146 were significantly higher than those in NC group(0.093,0.150,0.018 vs 0.043, 0.079,0.003,respectively,a11 P
3.Investigation and analysis of selenium and T-2 toxin in internal and external environment in the historical critical diseased areas of Kaschin-Beck disease in Qinghai Province in 2018
Jing MA ; Qiang ZHANG ; Cuiling LA ; Hong JIANG ; Lilin CHENG ; Shenglu BAI ; Duolong HE ; Shengmei LI ; Xianya MENG
Chinese Journal of Endemiology 2019;38(6):463-466
Objective To understand the current environmental selenium and T-2 toxin levels in the critically ill areas of Kaschin-Beck disease in Qinghai Province.Methods In three historical villages with serious diseases of Kaschin-Beck disease,Xia,Xiemalang and Yaoshidao were selected;at the same time,three villages from non-diseased areas were selected as control villages including Damitan,Gongba and Deang in 2018.Six villages were used as survey sites.Collected hair samples of children aged 6-12 years old,to measure the hair selenium content in Xinghai and Guide survey sites [children's selenium content reference value was (0.60 ± 0.03)mg/kg].Ten samples of self-produced grain were collected from each survey site,selenium content [wheat selenium content reference value was (0.053 ± 0.007) mg/kg] and T-2 toxin content in grain was detected in the six survey sites.Ten soil samples were collected from each survey sites.Soil selenium content was detected in the six survey sites [soil selenium content reference value was (0.24 ± 0.03) mg/kg].Results The selenium contents of children's hair in the diseased and non-diseased areas of Xinghai County,Guide County were (0.252 ± 0.071),(0.296 ± 0.087);(0.225 ± 0.032),(0.238 ± 0.040) mg/kg,respectively.The selenium contents of wheat in the diseased and nondiseased areas of the three counties were 0.000 19,0.003 66;0.000 15,0.004 16;0.016 78,0.016 94 mg/kg.The soil selenium contents in the diseased and non-diseased areas of the three counties were (0.095 ± 0.015),(0.114 ± 0.014);(0.082 ± 0.013),(0.083 ± 0.018);(0.080 ± 0.005),(0.060 ± 0.013) mg/kg.The T-2 toxin contents of wheat in the diseased and non-diseased areas of the three counties were (3.173 ± 0.762),(3.100 ± 0.473);(2.506 ± 0.430),(3.186 ± 0.451);(2.416 ± 0.619),(2.879 ± 0.456) μg/kg.Conclusions The content of hair selenium of children is close to the normal reference value in the area of Kaschin-Beck disease in Qinghai Province.The contents of soil selenium and the main grain selenium of the residents are low in the diseased village.A certain amount of T-2 toxin is detected in the main grain of residential households.