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Your search keyword '"He, Deqin"' showing total 3 results
Start Over Author "He, Deqin" Publisher e-century pub. corp
3 results on '"He, Deqin"'

1. Identification of a novel pre-terminating mutation in human HBB gene as a cause of β 0 -thalassemia phenotype.

Author

Xu L, Chen M, Huang H, Lin N, Chen L, Wang Y, Zhang M, He D, and Lin Y

Abstract

Beta (β)-thalassemia (thal) is one of the most common genetic disorders of hemoglobin synthesis worldwide. Most cases of β-thal are caused by point mutations in hemoglobin subunit beta (HBB) gene, and only a minority of cases are caused by missing mutations of HBB gene. In this study, a 31-year-old pregnant woman with a typical thal phenotype was admitted at Fujian Provincial Maternity and Children's Hospital for prenatal diagnosis. Her father also presented with a typical thal phenotype, while the other members in the proband family were normal. Interestingly, Gap-PCR and reverse dot-blot hybridization assays showed that no mutation was found in the human HBA and HBB genes of the proband and her father. Subsequently, Sanger DNA sequencing identified a novel pre-terminating mutation, c.271 G>T [CD90 (GAG>TAG, Glu→stop codon)], in HBB gene from the proband and her father, while the other members in the proband family were normal. This mutation created a stop codon at amino acid 90 in exon 2 coding sequences of HBB gene, and led to a β 0 -thal phenotype. In summary, the present study is, to the best of our knowledge, the first to report a pre-terminating mutation, c.271 G>T [CD90 (GAG>TAG, Glu→stop codon)], in human HBB gene as a cause of β 0 -thal phenotype. This is important for clarifying the molecular mechanism of β 0 -thal and is useful for genetic counseling and prenatal screening., Competing Interests: None., (IJCEP Copyright © 2019.)

Published
2019

2. A rare α-thalassemia deletion, -α 27.6 , is identified from three Chinese families in Fujian province.

Author

Huang H, Chen M, Chen X, Wang Y, Lin N, He D, Li Y, Lin Y, and Xu L

Abstract

Alpha (α)-thalassemia (thal) is a common single-gene genetic disease in southern China, which may cause Hb Bart's hydrops fetalis and Hb H disease. In α + thal, one of the α genes is inactivated, due either to a deletion (-α) such as the rightward deletion (-α 3.7 ) and leftward deletion (-α 4.2 ), or to another form of mutation (α T α), such as the Hb Constant Spring (α CS α). In this study, three probands from three Chinese families in Fujian Province showed HbH disease traits, while their common genotypes of α-thal were -- SEA /-- SEA at a routine analysis. In doing so, we further found a rare 27.6 kb deletion on the α-globin gene cluster in the three probands by MLPA (multiplex ligation-dependent probe amplification) and Sanger DNA sequencing, and its breakpoints were detected to lie between coordinates 9079 and 36718 with a total of 27,640 nucleotides deletion. The accurate genotypes of the three probands were -α 27.6 /-- SEA , which led to a very mild hemoglobin H (HbH) disease phenotype with low MCV, MCH, and HbA2 levels. Phenotypic analysis on the heterozygote of this deletion revealed it as α + mutation. In conclusion, we report a rare α-thal deletion, -α 27.6 , in three Chinese families from Fujian Province. Our study extends the spectrum of the α-thal mutation in the Chinese population. It is necessary to increase awareness of the rare α-thal mutation and to increase its detection, which will prove valuable in genetic counseling and prenatal diagnosis in Fujian Province., Competing Interests: None., (IJCEP Copyright © 2018.)

Published
2018

3. Embryonic protective role of folate in arsenic-induced cardiac malformations in rats.

Author

Lin Y, Zhuang L, Yi H, Xu L, Huang H, He D, Zhao X, Ma H, and Wu L

Abstract

Background: To investigate impacts of sodium arsenic (NaAsO 2 ) on embryonic cardiac development in rats and evaluate the protective role of folate in NaAsO 2 exposure rats., Methods: We divided 90 female rats randomly into 9 groups. Group A was the control; group B-F were the animals fed with NaAsO 2 in a series of increased doses, corresponding to 9.4 mg/L, 18.8 mg/L, 37.5 mg/L, 75 mg/L and 150 mg/L, respectively; group G-I were fed with 75 mg/L of NaAsO 2 , in addition of folate with doses of 0.53 mg/kg, 5.3 mg/kg, and 10.6 mg/kg, respectively. Their fetus' general development and cardiovascular systems were examined. Nkx2.5, GATA4, TBX5 gene and protein expression were measured., Results: Relatively to group A, arsenic treated group C-F rats generated significantly lower weight of fetus and placenta (P<0.05), whereas the folate-treated groups H and I were significantly heavier than the arsenic-treated group E (P<0.05). We observed that incidences of cardiac malformations were significantly greater in arsenic-treated group E and F than group A (P<0.05). We found that the Nkx2.5 and GATA4 protein expression in the fetal hearts were downregulated in group B-F compared to group A. But the expression of them was significantly upregulated in group H-I relatively to group E (P<0.05). Moreover, the TBX5 gene expression was increased in both group D-F and G-I when they were compared to group A or group E, respectively (P<0.05)., Conclusion: NaAsO 2 induce embryonic cardiac defection and folate supplement alleviate this impairment through modulation of the Nkx2.5, GATA4 and TBX5 gene expression., Competing Interests: None., (IJCEP Copyright © 2018.)

Published
2018

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