ABSTRACT
Background Inheritance is one of main causing-disease factors in congenital cataract.So the screen of causing-disease gene in congenital cataract patients is a critical step.Objective This survey was to investigate the molecular characteristics of a Chinese pedigree with a special crystalline autosomal dominant congenital cataract(ADCC) in Shanxi province.Methods This study was approved by Ethic Commission of Shanxi Eye Hospital.Informed consent was obtained from each subject before any medical examination.Twenty-two families from a pedigree with special crystalline were included in this study.The family members received regular ophthalmologic and general examinations to rule out any concomitant disorders.Blood samples were obtained to extract the DNA from all the subjects.Twenty-two fluorescent labeled microsatellites were selected from 17 causing genes of ADCC and amplified and screened for the linkage analysis.LOD was calculated and the candidate gene was directly sequenced.Results Ten individuals with congenital cataract were found in the family with the similar phenotype.The inheritance mode complied with the autosomal dominant pattern.Linkage analysis indicated a gene chain at D2S325 and D2S2358 with the LOD value 1.20(θ =0) and 0.22(θ =0).A known c.C70A(p.P23T) missence mutation at the coding region of CRYGD gene was detected by direct sequence.Conclusions A missense mutation P23T of the CRYGD gene cause the autosomal dominant congenital nuclear cataract with the special phenotype.
ABSTRACT
<p><b>OBJECTIVE</b>To explore the HIV and syphilis infection and AIDS-related behaviors among money boys (MB) in Guangzhou.</p><p><b>METHODS</b>A total of 152 subjects were recruited from MB gathering place (clubs, parks, Internet etc.) by a local NGO. Of which, 151 individuals completed the investigation and blood sample collection. An anonymous face to face interview were used to obtain data of AIDS-related behavior, knowledge and attitudes. Venous blood samples were collected for HIV and syphilis antibody test. χ(2) test were used to compare the characteristics of HIV and syphilis infection subjects and P < 0.05 was counted as significant.</p><p><b>RESULTS</b>HIV and current syphilis infection rate were 11.3% (17/151) and 19.9% (30/151), respectively. Among the subjects, 47.0% (71/151) had unprotected anal intercourse (UAI) with commercial male sex partners, 43.7% (66/151) had UAI with non-commercial male sex partners in the past six month. 85.4% (129/151) were aware of AIDS-related knowledge, while 34.4% (52/151) thought they have no risk of HIV infection, 24.5% (37/151) didn't know the prevalence of HIV among MSM in China, and 55.0% (83/151) had no idea of HIV prevalence or thought HIV prevalence was not serious at all among MB. MB who had experienced sex after drunk/used drugs had higher proportion of syphilis infection (33.3% vs 16.5%; χ(2) = 4.26, P = 0.039), and who had ever been experiencing condom broken during sex had much higher syphilis infection rate than those didn't (36.7% vs 15.7%; χ(2) = 6.64, P = 0.010). A multi-Logistics regression analysis showed that subjects had ever been experiencing condom broke during sex in the past six month were associated with syphilis infection (χ(2) = 6.24, P = 0.012; OR = 3.11, 95%CI = 1.28 - 7.57).</p><p><b>CONCLUSION</b>Money boys have high prevalence of HIV and syphilis infection. They are lack of perception of HIV risk and active in unsafe sex behavior.</p>