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Objective To report a familial dentinogenesis imperfecta type Ⅱ (DGI type Ⅱ) with a novel splicing mutation in DSPP (dentin sialophosphoprotein) gene.Methods Based on the result of linkage analysis performed previously to map the candidate gene DSPP in the family, the promoter,the first four exons and exon-intron boundaries of DSPP were directly sequenced for the members of the DGI type Ⅱ family. Denaturing high performance liquid chromatography (DHPLC) analysis was performed to confirm the results of sequencing.Results A novel splicing mutation of 23 bp deletion in intron 2 of DSPP gene was identified by DNA sequence analysis. The mutation changed acceptor site sequence from CAG to AAG, and might result in functional abolition of possible branch point site in intron 2. DHPLC result was consistent with that of sequencing. The mutation may be identified in all affected individuals, but not found in normal members of the family and 50 controls.Conclusion These results suggest the deleted mutation of DSPP gene causes DGI type Ⅱ in the family. The mutation has not been reported before.
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<p><b>OBJECTIVE</b>To survey the prevalence of sexually transmitted diseases among high-risk population in Nanjing.</p><p><b>METHODS</b>A high-risk population of 1539 underwent physical examinations from September 2001 to May 2004. The results were recorded, the urogenital swabs collected to further detect Neisseria gonorrhoeae (GN), Chlamydia trachomatis (Ct), Ureaplasma urealyticum (Uu), and the blood specimens tested for syphilis and HIV antibodies.</p><p><b>RESULTS</b>The infection rates were 13.5% for GN, 10.3% for syphilis, 2.3% for condyloma acuminata, 35.9% for Ct and 22.4% for Uu respectively. Nongonococcal urethritis (NUG) was shown to be the most prevalent STD in the group. No subject was found to be positive with HIV antibody.</p><p><b>CONCLUSION</b>Screening strategy in the high risk population is useful and efficient in controlling the spread of STDs and HIV.</p>
Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Antibodies, Bacterial , Blood , Antibodies, Viral , Blood , China , Epidemiology , Gonorrhea , Epidemiology , HIV , Allergy and Immunology , HIV Infections , Epidemiology , Incidence , Neisseria , Allergy and Immunology , Sexually Transmitted Diseases , Epidemiology , Syphilis , Epidemiology , Treponema , Allergy and ImmunologyABSTRACT
<p><b>OBJECTIVE</b>To observe the segregation of sex chromosomes in the spermatozoa of a 46, XY/47, XXY patient with oligozoospermia.</p><p><b>METHODS</b>The number of X and Y chromosomes of the ejaculated spermatozoa from the patient with mosaic 46, XY/47, XXY was analysed by X/Y dual fluorescence in-situ hybridization (FISH).</p><p><b>RESULTS</b>Of the 100 spermatozoa analysed, 97 showed either one X chromosome-specific green signal or one Y-chromosome-specific red Y signal in each spermatozoon and only 3 showed no signal. The frequencies of X- and Y-bearing spermatozoa were 49% and 48% respectively. The ratio of X- to Y-bearing spermatozoa was about 1:1 as expected. There was no statistical difference between the chromosome XX and XY frequencies in each spermatozoon from the patient in comparison with those estimated in the control.</p><p><b>CONCLUSION</b>The spermatozoa of 46, XX/47, XXY mosaic patients have a normal gonosomal complement, which allows infertility treatment to be carried out by ICSI.</p>
Subject(s)
Adult , Humans , Male , Chromosomes, Human, X , Chromosomes, Human, Y , In Situ Hybridization, Fluorescence , Klinefelter Syndrome , Genetics , Therapeutics , Oligospermia , Genetics , Therapeutics , Sperm Injections, IntracytoplasmicABSTRACT
<p><b>OBJECTIVE</b>To understand the knowledge, attitude, behavior and perception (KABP) related to STD/AIDS among the high-risk population and to explore effective methods for health education and behavioral intervention.</p><p><b>METHODS</b>Seven hundred and twenty of the reeducated in a reeducation center were surveyed using questionnaires, which were collected and analyzed.</p><p><b>RESULTS</b>The knowledge of the subjects about STD/AIDS was insufficient. When they had sex with their clients, the preventive measures against STD/AIDS were incorrect and the proportion of condom use was small. And when infected with STD/AIDS, they turned to private clinics for nonstandard treatment.</p><p><b>CONCLUSION</b>The knowledge of save sex and the preventive measures against STD/AIDS need to be improved, and correct guidance is imperative as to the seeking of standard medical help among the high-risk population. The key to sexual health education was to establish a corresponding social supporting system.</p>
Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Acquired Immunodeficiency Syndrome , Psychology , China , Health Knowledge, Attitudes, Practice , Sexually Transmitted Diseases , Psychology , Social Support , Surveys and Questionnaires , Unsafe SexABSTRACT
Objective:To investigate the expression of annexin 5 in rat testis after removing submandibular gland in rats. Methods:On day 14,28 and 42 after the operation,the changes of annexin 5 expression in rat testis were analyzed by Western blot and Immunohistochemistry.Results:Western blot showed that there was a 27.5% and a 35.2% significant increase(P
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Objective:To establish a method of endometrial glandular cells culture,storage and subculture in vitro,so as to study its antigen components.Methods: Endometrial glandular cells and stromal cells were isolated by collagenase digestion and copper sieve filtration methods and monolayer cultured. Results: Glandular cells and stromal cells in the culture had been observed by light microscopy and stained positively by keratin and vimentin McAb respectively using immunohistochemical method. The glandular cells life span can last 4-6 weeks and 2-3 population doublings. Conclusion: Our establishment of endometrial glandular cells show great promise for providing more non-hysterectomy origin EMAg.
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Objective: To report a case of azoospermia with a karyotype of 45,X,der(Y)t(Y;13)(q11.2;q12),-13,accompanied with slight bilateral gynecomastia and multiple nodules.Methods: The karyotype was identified by karyotyping and FISH,and the breakpoints of the Y chromosome and the copy number of the BRCA2 gene in 13q12 determined by PCR-STS and DNA polymorphic analysis.The testis and nodule tissues of the patient were obtained for biopsy.Results: FISH confirmed SRY and centromere of the Y chromosome on the questionable 13 chromosome and the karyotype to be 45,X,der(Y)t(Y;13)(q11.1;q12),-13.ish der(Y)(SRY+,DYZ3+,wcp13+).PCR-STS showed the deletion of regions AZFa,b and C,with a breakpoint located inYq11.1 below sY82.No deletion of the BRCA2 gene was observed.The patient was diagnosed with Sertoli cell-only syndrome by testicular biopsy and with angiolipomata by pathological examination of the nodule tissue.Conclusion: The patient's phenotype of complete masculinization could be attributed to presence of the SRY gene,and his azoospermia with small testis to the absence of a fragment from Yq11.1 to Yqter.However,the molecular mechanism of angiolipoma remains unknown.