Blood&Genomics

Gradimir Misevic

2018, 2(2): 71-84. doi: 10.46701/APJBG.2018022018113

Abstract(1656) PDF(1792KB)(8852)

Abstract:
The ABO blood group system in humans has three different carbohydrate antigens named A, B, and O. The A antigen sequence is terminal trisaccharide N-acetylgalactosamine (GalNAc)α1-3[Fucα1-2]Galβ-, B is terminal trisaccharide Galα1-3[Fucα1-2]Galβ-, and O is terminal disaccharide Fucα1-2Galβ-. The single ABO gene locus has three alleles types A, B and O. The A and B genes code A and B glycosyltransferases respectively and O encodes an inactive enzyme. A large allelic diversity has been found for A and B transferases resulting in the genetic subgrouping of each ABO blood type. Genes for both transferases have been cloned and the 3D structure of enzymes with and without substrate has been revealed by NMR and X ray crystallography. The ABO blood group system plays a vital role in transfusion, organ and tissue transplantation, as well as in cellular or molecular therapies.

Mechanisms and relevant genes of drug resistance in gastric cancer

Xingwang Kuai, Lizhou Jia

2018, 2(2): 85-90. doi: 10.46701/APJBG.2018022018111

Abstract(1286) PDF(381KB)(1030)

Abstract:
Gastric cancer (GC) is one of the most common malignancies in China, and chemotherapy is an important treatment for GC. However, drug resistance remains the main barrier to successful chemotherapy. Drug resistance is a complex phenomenon resulting from a combination of factors and mechanisms. The number of known relevant genes implicated in this phenomenon is growing rapidly. This review focuses on the mechanisms involved in the occurrence of drug resistance and explores the functions of several relevant genes in GC chemotherapy resistance.

Association of HLA classⅠand classⅡgenes with severe acute respiratory syndrome in the northern Chinese population

Dongjing Liu, Yan Qiu, Yi Zha, Wei Li, Dongmei Li, Tao Wu

2018, 2(2): 91-96. doi: 10.46701/APJBG.2018022018101

Abstract(1404) PDF(300KB)(947)

Abstract:
Severe acute respiratory syndrome (SARS) was a major epidemic at the beginning of the 21^st century. This highly infectious disease is caused by a novel coronavirus (SARS-CoV), whose immune reaction is still not completely understood. This study described the genetic patterns of HLA-A, -B, and -DRB1 loci in patients from Beijing who survived SARS, and examined whether an association between HLA genes and susceptibility/resistance to SARS exists. A total of 148 Chinese Han SARS survivors were recruited to donate convalescent plasma in 2003. HLA low-resolution genotyping was carried out using PCR-SSP. Allele frequencies were compared with published frequencies of HLA alleles from 11 755 unrelated northern Chinese Han bone marrow donors by Fisher's exact test. In this cohort, 13, 25 and 13 alleles were observed at HLA-A, -B, and -DRB1 loci respectively. Fisher's exact tests revealed four alleles (A*26, DRB1*04, DRB1*09, and DRB1*16) that showed a nominal association significance with the SARS virus (P<0.05), yet none of these associations remained significant after correction. Our study suggests that HLA polymorphisms were unlikely to have contributed significantly to either the susceptibility or resistance to the SARS-Cov infection in patients who survived SARS in the Northern Chinese population, thus leaving an open question for future studies into a possible association HLA class Ⅰ and class Ⅱ genes with SARS in patients who were unable to survive the infection.

Analysis and application of NAT in Dongguan blood center more than 10 years

Ziyi He, Shaobin Chen, LinYu, Qing Wang, Qingkai Chen, Jiaoli Zou, Jialin Che

2018, 2(2): 97-102. doi: 10.46701/APJBG.2018022018106

Abstract(1255) PDF(351KB)(886)

Abstract:
This report reviewed the efficacy of nucleic acid testing (NAT), derived from assaying and measuring data, using a Cobass201 system at the Dongguan blood center from 2008 to 2017. During this period, four blood screening models, each reflecting procedure improvements designed to improve residual risk (RR) assessment were assessed. A total of 716 846 blood donors were screened, detecting 1 395 positive by the mixed pool test, which were finally modified to 900 positive cases, after final detection by the separation-single test: detecting 6 HIV cases, 4 HCV cases and 890 HBV cases with a total positive rate of 1.25%. The lowest result was obtained from the twice administered enzyme-linked immunoassay (ELISA) test,used in conjunction with the single Cobas MPX v2.0 model,with rates of: 1/7 405 for HBV, 1/346 020 for HCV and 1/473 934 for HIV, respectively. NAT positive rate is not affected by different screening models. NAT is a recent detection method which can be used to good effect with ELISA, and is a worth while procedure for promoting blood transfusion safety.

The association between HLA alleles (A, B, DRB1) and HIV-1 infection/ AIDS progression in the Han Chinese population of Hubei province

Wangxia Li, Ru Yang, Fengwu Qiu, Jing Xu, Gang Shen, Yan Ma

2018, 2(2): 103-110. doi: 10.46701/APJBG.2018022018104

Abstract(1520) PDF(437KB)(834)

Abstract:
The association between HLA alleles (A, B, DRB1), haplotypes and AIDS progression in HIV-1 infected patients was investigated by analyzing and comparing the differences gene frequencies of HLA alleles (A, B, DRB1) and haplotypes in HIV-1 infected and AIDS individuals in Hubei province of China. Four hundred and twenty- four HIV-1 seropositive individuals were divided into two groups: HIV-1 infected group and AIDS patient group, according to diagnostic criteria. HLA-A, B, and DRB1 allele typing was performed using polymerase chain reaction-sequence-specific oligonucleotide (PCR-SSOP) and polymerase chain reaction-sequencing based typing (PCR-SBT) techniques. Our study revealed that B*57:01 seemed resistant to AIDS progression, and the presence of DRB1*04:05 was associated with a poor disease outcome in HIV-1 infection. These associations were independent of age, sex, and transmission route of the host. No association was observed between HLA-A, B, DRB1 homozygotes, HLA-Bw4, Bw6 serological types and AIDS progression. We concluded that HLA gene polymorphism has a significant role in HIV-1 infection/AIDS progression. This observational study may open up avenues for precision medicine in the personalized prevention and treatment of AIDS.

β-catenin is up-expressed and predicts poor overall survival of breast cancer

Lizhou Jia, Xiaobing Yang, Wei Zhao

2018, 2(2): 111-116. doi: 10.46701/APJBG.2018022018007

Abstract(1172) PDF(659KB)(873)

Abstract:
Breast cancer (BC) is one of the most common malignant tumors in women.The majority of BC cells contain at least one or more up-expressed oncogene. β-catenin is found overexpressed in various epithelial cell cancers and has the function of inducing cancer cell proliferation, invasion and metastasis. However, the expression of β-catenin and its prognostic value in BC is not yet clear. In this study, mRNA and β-catenin proteins expressed in BC tissues have been explored. Quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemistry (IHC) on tissue microarrays (TMA) were performed to examine the level of β-catenin mRNA and protein in BC tissues. The association between β-catenin and clinical characteristics and prognostic value were also explored. β-catenin mRNA and protein were found over-expressed in BC tissues when compared with matched tumor neighbor tissues. A high degree of β-catenin staining in BC tissues was significantly associated with tumor size, Ki67 expression, lymph node status and TNM stage. β-catenin up-expression was also able to predict poor overall survival (OS) rates. These results indicated that β-catenin may be a useful prognostic molecular biomarker for BC patients.

Prognostic and predictive value of IGFBP-6 in head and neck squamous cell carcinoma

Yue Qi, Mingming Tang, Wencheng Dai, Huaiqin Zhang, Liang Han

2018, 2(2): 117-124. doi: 10.46701/APJBG.2018022018109

Abstract(1371) PDF(810KB)(1043)

Abstract:
The aim of this study was to assess insulin-like growth factor binding protein-6 (IGFBP-6) expression, and its potential value as a prognostic indicator of survival in patients with head and neck cancer (HNC). Quantitative realtime polymerase chain reaction (qRT-PCR) and immunohistochemistry analyses were used to determine IGFBP-6 mRNA and protein expression, respectively, in HNC. The correlations between IGFBP-6 expression levels and clinical characteristics or prognoses were determined via statistical analyses. IGFBP-6 mRNA and protein levels were significantly higher in HNC tissues than in normal adjacent tissues (P<0.000 1). High IGFBP-6 expression in cancer tissues was significantly associated with sex (P=0.013), tobacco consumption (P=0.021), tumor location (P=0.001), histopathological grade (P=0.030), T stage(P=0.04), and tumor classification. IGFBP-6 expression in buccal squamous cell carcinoma (BSCC) tissues was correlated with laryngeal squamous cell carcinoma (LSCC) development (P=0.001) but not tongue squamous cell carcinoma (TSCC) development (P=0.355). High IGFBP-6 expression (P=0.001), histopathological grade (P=0.020), T stage (P=0.007), lymph node metastasis (P=0.001), and pTNM stage (P=0.001) were identified as significant prognostic factors for survival. Kaplan-Meier survival curves demonstrated that patients with high IGFBP-6 levels or stage Ⅲ + Ⅳ cancer exhibited significantly shorter survival times than patients with low IGFBP-6 levels or stage Ⅰ + Ⅱ disease. Our findings provide the first evidence that high IGFBP-6 expression is associated with poor prognosis in HNC.

Serological and molecular analysis of anti-Tja: Case report

Zhiyuan Xu, Haochun Chang, Xiaojie Zhu, Chen Cao, Tianhong Miao, Jiwu Gong, Yu-Shiang Lin

2018, 2(2): 125-128. doi: 10.46701/APJBG.2018022018108

Abstract(1388) PDF(858KB)(1047)

Abstract:
P antigen frequency is very low in the Chinese population. However, the presence of anti-P1PP^k (anti-Tja) is a huge risk for patients undergoing clinical transfusions and recurrent abortions. This report aims to describe p antigen and anti-Tja serological test features and suggests ways in which we may better identify the p antigen. Polymerase chain reaction was used to amplify A4GALT and B3GALNT1, which were then analysed for polymorphisms using Sanger sequencing. The A4GALT sequence results revealed c. 547-548delAT (HE818933), which resulted in a frame shift at aa 183 stopping at aa 281 (M183fs, 281X). Compared with the reference sequence, B3GALNT1 did not show any variations in any of the subjects assessed. Eggs from Columba livia were used in the neutralised P substance test, but failed to neutralise anti-Tja. The serological test and molecular analysis confirmed that the P blood antigens are caused by A4GALTc. 547-548 AT deletion, and the neutralised P substance test cannot identify anti-PP1Pk from RBC alloantibodies against high frequency antigens.

One case of platelet donor selection for a platelet transfusion refractory patient of the ethnic minority descent

Tiejun Song, Jun Huang, Ying Zhang, Yingjian Wang, Yetao Han, Mengsi Hu, Zhiwei Liu

2018, 2(2): 129-131. doi: 10.46701/APJBG.2018022018114

Abstract(876) PDF(244KB)(951)

Abstract:

Disseminated central nervous system aspergillosis: A case report

Yimin Zhang, Huiying Qiu, Mingyuan Liu, Lili Xu, Xiaoxia Hu, Jianmin Wang

2018, 2(2): 133-135. doi: 10.46701/APJBG.2018022018102

Abstract(819) PDF(325KB)(840)

Abstract:

2018 Vol. 2, No. 2