摘要
OBJECTIVE@#This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.@*METHODS@#We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.@*RESULTS@#The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.@*CONCLUSION@#Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Subject(s)
Humans , beta-Thalassemia/genetics , alpha-Thalassemia/genetics , Hemoglobinopathies/genetics , China/epidemiology , High-Throughput Nucleotide Sequencing摘要
Objective To discuss the clinical manifestations, imaging data and DSA findings of lacunar infarction (LI). Methods One hundred and thirty-three patients, admitted to our hospital from May 2002 to April 2008, were chosen in our study; these patients with first onset as LI were confirmed by Head CT or MR; the clinical manifestations and imaging data were retrospectively analyzed; DSA was also performed on these patients and DSA findings were concluded. Results One hundred and thirty-three patients were clinically manifested as pure motor hemiplegia (PMH, n=42, 31.6%) and sensorimotor stroke (SMS, n=36, 27.1%). Two hundred and eighty-three lesions were noted by CT/MR examinations, including 78 locating at the endocyst (27.6%) and 121 locating at the corona radiate+greater oval center (91.0%). Forty-four patients were noted as having 101 intracranial vessel lesions by DSA, including 38 patients with angiostenosis, 6 with Moyamoya and 1 with single intracranial aneurysm; of the patients with angiostenosis, 95 lesions (34 in the offending vessels and 61 in other vessels) were found. Among the DSA (+) patients, PMH (n=21) and SMS (n=10) were mainly noted with their lesions locating at the endocyst (n=23) and the corona radiate+greater oval center (n=31); At least 1 high-risk factor such as hypertension, diabete, hyperlipemia, coronary heart disease and arial fibrillation was found in 44 patients. Conclusion The pathogeneses of LI are various. Main artery infarction may co-exist in some cases. PMH and SMS are common with their lesions frequently locating at basal ganglia area and corona radiate of the cerebral hemisphere. High risk factor exists in most patients with cerebrovascular diseases.
摘要
Objective To investigate the relationship between CYP19 gene polymorphism and Alzheimer disease. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the allele frequency distribution at the Mfe Ⅰ site of CYP19 gene in 102 patients with Alzheimer disease and 121 healthy control subjects. Results The frequencies of CYP19 ml and m2 alleles showed significant differences between the patient group and the control group (66.2% vs 81.0% and 33.8% vs 19.0%, respectively, X2=12.696, P<0.05). In patients with Alzheimer disease, the frequencies ofm1/m1, m1/m2, m2/m2 genotypes of CYP19 gene were 44.1%, 44.1%, and 11.8%, respectively, showing significant differences from the frequencies in the control subjects (65.3%, 31.4%, and 3.3%, respectively, X2=12.384, P<0.05). Conclusion CYP19 gene polymorphism at the Mfe Ⅰ site is associated with the genetic susceptibility to Alzheimer disease.
摘要
Objective To study the effects of human uriilary kallikrein(HUK)on the number of apoptotic cells and the expressions of Bcl-2 and Bax proteins in rats after focal cerebral ischemia and reperfusion(FCIR) injury. Methods Eighty-four Spmque-Dawley(SD)male rats were randomly divided into sham-operated group(n=12),ischemia-reperfusion group(n=36),and HUK-treated group (n=36). Transient focal cerebml ischemia models were established by middle cerebml artery occlusion.Six rats were chosen from sham-operated group,ischemia-reperfusion group,and HUK-treated group for measuring infarct sizes.The rest were used to evaluate neurologic fhnction impaiment and measure the nunlber of apoptotic cells and Bcl-2 or BaX protein positive cells in cerebral cortex with TUNEL and immunohistochemistry.The latter 2 groups were subdivided into 6,12,24,72,168 h reperfusio groups (each n=6). Results The neurologic function impairmlent score,the infarct sizes,the apoptotic cells and the expression of Bax protein of HUK-treated group at different time points (except 168 h group)significantly decreased compared wilh those of ischemia-reperfsion group (p＜0.05).The expression of Bcl-2 protein of HUK-treated group at different time points(except 168 h group) remarkably increased compared with that of ischemia-reperfusion group(P＜0.05). Conclusions HUK can excrt a protection against FCIR injury, maybe through up-regulating Bcl-2 and down-regulating Bax protein in the initial 3 d of FCIR injury to decrease the number of apoptotic cells