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Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China
Shou-Xia Li,Ding-Li Chen,Su-Bin Zhao,Li-Li Guo,Hai-Qin Feng,Xiao-Fang Zhang,Li-Li Ping,Zhi-Ming Yang,Cai-Xia Sun,Gen-Dong Yao 대한이비인후과학회 2015 Clinical and Experimental Otorhinolaryngology Vol.8 No.3
Objectives. Infants with slight/mild or late-onset hearing impairment might be missed in universal newborn hearing screening (UNHS). We identified the mutation hot spot of common deaf gene in the newborns in Jinan area population by screening the mutation spot with neonate cord blood, in order to make clear whether the neonate cord blood for screening is feasible. Methods. Six hundred and forty-six newborns were subjected to both UNHS and genetic screening for deafness by using neonate cord blood. The newborn genetic screening targeted four deafness-associated genes, which were commonly found in the Chinese population including gap junction beta-2 protein (GJB2), gap junction beta-3 protein (GJB3), solute carrier family 26 member 4 (SLC26A4), and mtDNA 12S rRNA. The most common 20 spot mutations in 4 deaf genes were detected by MassARRAY iPLEX platform and mitochondrial 12S rRNA A1555G and C1494T mutations were sequenced using Sanger sequencing. Results. Among the 646 newborns, 635 cases passed the UNHS and the other 11 cases (1.7%) did not. Of the 11 failures, two cases were found to carry homozygous GJB2 p.R143W pathogenic mutation, one case was found to have heterozygous GJB2 235delC mutation, and another one case carried heterozygous GJB3 p.R180X pathogenic mutation. Six hundred and thirty-five babies passed the newborn hearing screening, in which 25 babies were identified to carry pathogenic mutations, including 12 heterozygotes (1.9%) for GJB2 235delC, eight heterozygotes (1.3%) for SLC26A4 IVS7-2A>G, one heterozygote (0.2%) for p.R409H, two homozygotes (0.3%) for m.1494C>T, and two homozygotes (0.3%) for m.1555A>G. Conclusion. Newborn genetic screening through the umbilical cord blood for common deafness-associated mutations may identify carriers sensitive to aminoglycoside antibiotic, and can effectively prevent or delay hearing loss occurs.
Li, Cai-Xia,Zhang, Kai,Xie, Fu-Bo Asian Pacific Journal of Cancer Prevention 2013 Asian Pacific journal of cancer prevention Vol.14 No.9
Objective: This study aimed to investigate the effects of BCRP expression on tumor recurrence, metastasis and treatment tolerability. Methods: A VX2 rabbit liver tumor model was established. Division was randomly into 4 groups: namely saline control group; A group, given hydration lipiodol; B group, Ad-p53; and C group, Ad-p53+hydration lipiodol. After the intervention, samples were collected to detect the BCRP, MMP-2, VEGF and PCNA. Results: The expression of BCRP, MMP-2, PCNA and VEGF in tumors in Group A had no significant difference when compared with the control group, while in B and C group, the values were significantly lower (P<0.05). BCRP positive expression in metastatic lesions significantly increased (P<0.05), and was correlated with MMP-2 ($X^2=6.172$, P=0.0131). Conclusions: BCRP may play an important role in mediating liver cancer multidrug resistance to chemotherapy, and may be correlated with tumor recurrence and metastasis, which leads to weakened treatment effect. Ad-P53 can down-regulate the expression of related genes, playing a role in multidrug resistance reversal and increased sensitivity in liver cancer treatment.
Wang, Cai-Xia,Wang, Xiang,Liu, Hai-Bai,Zhou, Zhi-Heng Asian Pacific Journal of Cancer Prevention 2014 Asian Pacific journal of cancer prevention Vol.15 No.1
Objective: Altered regulation of many transcription factors has been shown to play important roles in the development of leukemia. hMSH2 can modulate the activity of some important transcription factors and is known to be a regulator of hematopoietic differentiation. Herein, we investigated epigenetic regulation of hMSH2 and its influence on cell growth and overall survival of acute lymphoblastic leukemia (ALL) patients. Methods: hMSH2 promoter methylation status was assessed by COBRA and pyrosequencing in 60 ALL patients and 30 healthy volunteers. mRNA and protein expression levels of hMSH2, PCNA, CyclinD1, Bcl-2 and Bax were determined by real time PCR and Western blotting, respectively. The influence of hMSH2 on cell proliferation and survival was assessed in transient and stable expression systems. Results: mRNA and protein expression of hMSH2 and Bcl-2 was decreased, and that of PCNA, CyclinD1 and Bax was increased in ALL patients as compared to healthy volunteers (P<0.05). hMSH2 was inactivated in ALL patients through promoter hypermethylation. Furthermore, hMSH2 hypermethylation was found in relapsed ALL patients (85.7% of all cases). The median survival of patients with hMSH2 methylation was shorter than that of patients without hMSH2 methylation (log-rank test, P=0.0035). Over-expression of hMSH2 in cell lines resulted in a significant reduction in growth and induction of apoptosis. Conclusions: This study suggests that aberrant DNA methylation and epigenetic inactivation of hMSH2 play an important role in the development of ALL through altering cell growth and survival.
예채하 ( Ni Cai Xia ) 한양대학교 동아시아문화연구소 (구 한양대학교 한국학연구소) 2010 동아시아 문화연구 Vol.48 No.-
비휴(비휴)는 사악한 기운을 몰아내고 길한 기운을 들여 집안의 재앙을 피하고 재산을 늘려주는 상서로운 동물로, 오랜 세월 중국인들의 삶과 밀접한 관련을 맺어왔다. 하지만 비휴에 관련된 문헌 기록이 제대로 남아있지 않아 자세한 내용은 알 수가 없었다. 다행히 광둥성의 오천(吳天), 증성(增城), 동완(東莞) 등지에 ‘비휴춤[舞비휴]’이 남아 있어 독특한 특징을 보존한 전통춤의 면면과 연출 기법을 살펴볼 수 있었다. 본고는 미약하나마, 남아있는 문헌 기록과 현지답사 자료를 바탕으로 비휴춤의 역사 연원과 공연 양상을 파악함과 동시에 거기에 나타나는 무예 숭상 정신과 사회적인 기능을 분석해보았다. 졸고가 이후의 연구에 조그만 초석이 될 수 있기를 바란다. Pixiu, a kind of auspicious animal that can exorcise, protect the family and attract good luck is very popular in the folk today. However, literature did not elaborate on Pixiu. A traditional dance about Pixiu is reserved at Wuchuan, Zengcheng, Dongguan of Guangdong Province today, its artistic image and performance form has unique charm. In this paper we try to clarify the historical origin and performance form of this traditional dance, through the literature ascertained and field survey, and analyzes the spirit of advocacy of Wushu and social function about the Pixiu dance. We hope to offer some reference opinions to the further research about this traditional dance.
Equivalent stiffness method for nonlinear analysis of stay cables
Xia, G.Y.,Cai, C.S. Techno-Press 2011 Structural Engineering and Mechanics, An Int'l Jou Vol.39 No.5
In the famous equivalent elasticity modulus method proposed by Ernst for the geometrical nonlinear analysis of stay cables, the cable shape was assumed as a parabolic curve, and only a part of the gravity load normal to the chord was taken into account with the other part of gravity load parallel to the chord being ignored. Using the actual catenary curve and considering the entire gravity load of stay cables, the present study has derived the equivalent stiffness method to analyze the sag effect of stay cables in cable-stayed bridges. The derived equivalent stiffness can be degenerated into Ernst's equivalent elasticity modulus method with some approximations. Therefore, the Ernst's method is a special and approximate formulation of the present method. The derived equivalent stiffness provides a theoretical explanation for the famous Ernst's formula.