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Objective To analyze the genotype-phenotype correlation in 5 families with congenital ectopia lentis (CEL) accompanied with cardiovascular abnormal manifestation.Methods Detailed clinical data of 15 family members in 5 families were collected from August 2017 to March 2018 in Zhongshan Ophthalmic Center,including examination of the condition of lens before and after mydriasis by slit-lamp,evaluation of the cardiovascular system using transthoracic echocardiography,and evaluation of the degree of involvement of the subjects' skeletal system using X-ray images.Genomic DNAs were extracted from whole blood sample of the 5 probands and 10 relatives,and screened for FBN1 mutation by targeted exome sequencing.The possible genotype-phenotype correlation was analyzed by reviewing previous literatures into these mutation sites.The study followed the principles of the Helsinki Declaration and written informed consent was obtained from each subject prior to any examination.Results All of the five probands were diagnosed as CEL accompanied with cardiovascular abnormal manifestation.FBN1 gene mutations were identified in all of the five probands,including four missense mutations (c.2741G＞T,c.2585G＞T,c.1633C＞T,c.4260C＞G) and one splicing mutation (c.2114-1G＞C).It was predicted that all of the 5 mutations would alter the protein structure.Conclusions FBN1 gene has a high degree of clinical heterogeneity,and the early detection of ocular phenotypes combined with genetic screening is of great significance in the diagnosis of cardiovascular abnormalities.
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Objective To investigate the relation between the NOSP gene C242T polymorphism and Chinese Korean nationality EH patients with LVH. Methods 108 Chinese Korean controls and 231 Chinese Korean EH patients were enrolled in the research.NOSP gene C242T polymorphism was analyzed by PCR. EH patients were divided into EH and EH+LVH group,all of them were evaluated with CDUS for left ventricular mass index. Results The distribution of NOSP gene C242T polymorphism showed no significant difference compared with controls and EH group.There was significant difference in distribution of CC vs CT+TT genotype between EH and EH+ LVH patients.CC genotype is more dangerous for EH patients combined with LVH than CT and TT genotypes. Conclusions The NOSP gene C242T polymorphism has no relation with EH in Korean nationality people. The NOSP gene C242T polymorphism has relation with EH+LVH; and the CC genotype is a susceptible gene for the Korean EH patients with LVH.
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lymorphism of CD14 gene is a risk factor for diabetic nephropathy.
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Objective To study the influence of ammoniummeta vanadate on the histological structure of jejunum of rats. Methods One hundred and twelve healthy and clean SD rats were randomly divided into the high dosage (60 mg/L),the moderate dosage(40 mg/L),the low dosage(20 mg/L) and the control group(distilled water),28 in each group,the males and females in the same number,the administration was conducted through drinking water,for 8 consecutive weeks. In the 4th and 8th weeks,the length of jejunum villus,the depth of jejunum gland and the thickness of jejunum wall were measured,the ratio of villus length and gland depth were counted and the pathological examination was done. Results With the increase of ammoniummeta vanadate,the weight of SD rats,the jejunum villus length,the depth of the jejunum gland,the wall thickness had showed a downward trend,the ratio of villus length and gland depth were significantly lower (P