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| 1 | Different sperm sources and parameters can influence intracytoplasmic sperm injection outcomes before embryo implantation显示文摘To evaluate the effects of sperm with different parameters and sources on the outcomes of intracytoplasmic sperm injection (ICSI), 1972 ICSI cycles were analyzed retrospectively. Groups 1 to 5 were composed of cycles using ejaculated sperm and were grouped according to sperm quantity, quality, and morphology into normal (288 cycles), or mild (329 cycles), moderate (522 cycles), severe (332 cycles), and extremely severe (171 cycles) oligozoospermia and/or asthenozoospermia and/or teratozoospermia (OAT) groups. Group 6 was composed of 250 cycles using testicular or epididymal sperm, and Group 7 consisted of 80 cycles using frozen-thawed sperm. We found that fertilization rates were gradually reduced from Groups 1 to 6, and reached statistical difference in Groups 5 and 6 (P<0.05). The high-quality embryo rate was higher in Group 1 than in Groups 2, 3, 5, 6, and 7 (P<0.05). No statistical differences were observed in the rates of embryo cleavage, clinical pregnancy, miscarriage, live-birth, premature birth, low birth weight, weeks of premature birth, average birth weight, or sex ratio for all seven groups (P>0.05). A total of nine cases of malformation were observed, with a malformation rate of 1.25% (9/719). In conclusion, different sperm sources and parameters can affect ICSI outcomes before embryo implantation. A full assessment of offspring mal-formation will require further study using a larger sample size. | Yue-hong LU1,2, Hui-juan GAO1, Bai-jia LI1, Ying-ming ZHENG1, Ying-hui YE1, Yu-li QIAN1, Chen-ming XU1, He-feng HUANG1, Fan JIN1 (1Department of Reproductive Endocrinology, Key Laboratory of Reproductive Genetics, Ministry of Education, and Key Laboratory of Women’s Reproductive Health of Zhejiang Province, Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China) (2Department of Reproductive Health, Shaoxing Women and Children Hospital, Shaoxing 312000, China) | 2012 | Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)2012，13，1： | 14 |
| 2 | Mitochondrial DNA A1555G mutation screening using a testing kit method and its significance in preventing aminoglycoside-related hearing loss显示文摘To report a new screening method for mitochondrial DNA 1555A→G mutation and the results of genotype analysis in 19 maternal inherited deafness pedigrees. Method Five hundred and forty-six non-syndromic neuro-sensory hearing loss patients were tested for 1555A→G mutation using a new compact testing kit, which allows clear distinction between wild type and 1555 A→G mutated mtDNAs. Results Nineteen subjects among the 546 patients (3.48%) were found to carry mtDNA A1555G mutation. The results were confirmed by sequencing in an ABI 3100 Avant sequencer. Conclusions Maternal inherited deafness families are a frequently seen in outpatient group. The detection of mtDNA 1555 A→G mutation with a low cost, ready to use detection kit is needed and suitable in China for large scale screening and preventive testing before usage of aminoglycoside antibiotics. | LIU Xin,1 DAI Pu,1* HUANG Deliang,1 YUAN Huijun,1 LI Weiming,1 YU Fei,1 ZHANG Xin,1 KANG Dongyang,1 CAO Juyang,1 YANG Weiyan,1 HAN Dongyi,1 JIN Zhengce2, GUAN Minxin3 1. Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China2. Weihai Aomaier Gene Technological CO.,LTD.,Weihai,Shandong 264200, China.3. Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA | 2006 | Journal of Otology2006，1，1： | 7 |
| 3 | Molecular pathogenetic mechanism of maternally inherited deafness显示文摘 | GUAN Min - XinDivision and Program in Human Genetics and Center for Hearing and Deafaess Research,Cincinnati Children’s Hospital Medical Center, and Department of Pediatrics, Universityof Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA | 2003 | 中华耳科学杂志2003，1，3： | 6 |
| 4 | Mitochondrial DNA Mutations Associated with Aminoglycoside Ototoxicity显示文摘The mitochondrial 12S rRNA has been shown to be the hot spot for mutations associated with both aminoglycoside-induced and non-syndromic hearing loss. Of all the mutations, the homoplasmic A1555G and C1494T mutations at a highly conserved decoding region in the 12S rRNA have been associated with aminoglycoside-induced and non-syndromic hearing loss in many families worldwide. The A1555G or C1494T mutation is expected to form novel 1494C-G1555 or 1494U-A1555 base-pair at the highly conserved A-site of 12S rRNA. These transitions make the secondary structure of this RNA more closely resemble the corresponding region of bacterial 16S rRNA. Thus, the new U-A or G-C pair in 12S rRNA created by the C1494T or A1555G transition facilitates the binding of aminoglycosides, thereby accounting for the fact that the exposure to aminoglycosides can induce or worsen hearing loss in individuals carrying these mutations. Furthermore, the growth defect and impairment of mitochondrial translation were observed in cell lines carrying the A1555G or C1494T mutation in the presence of high concentration of aminoglycosides. In addition, nuclear modifier genes and mitochondrial haplotypes modulate the phenotypic manifestation of the A1555G and C1494T mutations. These observations provide the direct genetic and biochemical evidences that the A1555G or C1494T mutation is a pathogenic mtDNA mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Therefore, these data have been providing valuable information and technology to predict which individuals are at risk for ototoxicity, to improve the safety of aminoglycoside antibiotic therapy, and eventually to decrease the incidence of deafness. | GUAN Min-Xin Division of Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio 45229, USA Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA | 2006 | Journal of Otology2006，1，2： | 3 |
| 5 | Prevalence of the GJB2 Mutations in Deafness Patients of Different Ethnic Origins in Xinjiang显示文摘Objective To investigate GJB2 mutation prevalences in the Uigur and Han ethnic groups in Xinjiang, China, and determine the relationship between ethnicity and GJB2 gene mutations. Methods Information regarding ethnicity of patients' families was obtained through medical records review and/or patient interview. Blood samples were collected from 61 Uigurs and 66 Hans for direct sequencing of the coding region and intron/exon boundaries of the GBJ2 gene. Results Carrier frequency of GJB2 mutations was similar between the Uigur and Han subjects. The GJB2 35delG mutation was seen only in Uigur patients with hearing loss, whereas the 235delC mutation was identified in both Uigur and Han patients. The allelic Frequency of 35delG mutation was 7.4% (9/122) in Uigur deaf students, but none in Han deaf students (0/128) and Uigur controls (0/196). The allelic frequency of GJB2 235delC mutation in Uigur and Han deaf students was 5.7% and 9.8%, and that of 299-300delAT mutation was 0.8% and 5.5%, respectively. V27I and E114G were the most frequent types of polymorphism. Conclusion We found an Asian-specific GJB2 diversity among Uigurs, and comparable GJB2 contribution to deafness in Uigur and Han patients. The high carrier frequency of 35delG in Uigurs (11.5%) is probably defined by gene drift/founder effect in a particular group. Even though GJB2 mutations have been widely reported in the literature, this discussion represents the first report of GJB2 mutations in Chinese multi-ethnic populations. | LI Qi1, DAI Pu1, HUANG De-liang1, ZHANG Jin2, WANG Guo-jian1, ZHU Qing-wen1, Liu Xin3, HAN Dong-yi1 1 Department of otolaryngology Head & Neck Surgery/Institute of Otorhinolaryngology, Genetic Testing Genter for Deafness, PLA General Hospital, Beijing 100853 2 Department of otolaryngology Head & Neck Surgery, Xinjiang Uigur Municipality People’s Hospital 3 Department of otolaryngology Head & Neck Surgery, PLA sixteenth Hospital | 2007 | Journal of Otology2007，2，1： | 3 |
| 6 | High expression of human serum albumin in milk of trans-genie mice directed by the goat β-casein gene promoter region显示文摘We have constructed a mammary gland expression vector that contained the goat β-casein gene pro-moter, 5’upstream regulatory region, exons 1, 2, intron 1 as well as the human serum albumin (hALB) mini-gene (including the full-long sequences of hALB cDNA and its intron 1). Injection of the vector into mouse tail veins showed that the recombinant construct was expressed only in mammary glands. The vector was microinjected into the mouse fertilized eggs, followed by transferring the eggs into the foster mice. 33 F0 mice were obtained. Of the 33, 8 mice (5 , 3 ) were transgenic with hALB gene integration identified by PCR as well as Southern blot hybridization. The integration rate was 24.2% (8/33). Western blot analysis showed that 3 female transgenic mice had hALB expression in their milk. The hALB contents in milk reached 3.54, 0.21 and 3.03 g/L, respectively. | HUANG Ying, HUANG Ying, HUANG Zan,YAN Jingbin, MA Zhanlu, SHENG Min,REN Zhaorui, ZENG Yitao & HUANG ShuzhenShanghai Institute of Medical Genetics, Shanghai Children’s Hospital, Shanghai 200040, China | 2001 | Chinese Science Bulletin2001，46，7： | 3 |
| 7 | Expression of biologically active human clotting factor Ⅸ(hFⅨ) in the mammary gland of transgenic mice显示文摘The DNA of human factor Ⅸ (hFⅨ) gene vector pMCⅨm, which had been proven to be able to express in in vitro and living cells, was introduced into 586 zygotes of Kunming White Mice by positive pressure microinjection technique with manual operation. The 499 survival embryos after microinjection were then transferred into pseudopregnant recipient mice and 216 F 0 pups were born. The analysis of PCR and Southern blot hybridization showed that, of the 216, 6 (2 females and 4 males) were integrated with foreign DNA in their genomes, giving an integration frequency of 3% (6/216). Two F\-0 female transgenic mice could express hFⅨ protein in their milk and the content was over 100 ng/mL as measured with ELISA. The biological activities of hFⅨ in the milk of two F\-0 mice were 44 67% and 79 43%, respectively. | HUANG Ying 1, ZHANG Kezhong 2, HUANG Wenying 1, LU Daru 2, HUANG Ying 1, MA Zhanlu 1, REN Zhaorui 1, QIU Xinfang 2, XUE Jinglun 2, ZENG Yitao 1 and HUANG Shuzhen 1* 1. Shanghai Institute of Medical Genetics, Shanghai Children’s Hospita | 1998 | Chinese Science Bulletin1998，43，15： | 2 |
| 8 | The incidence of preoperative and postoperative pain in endodontic therapy 显示文摘 | Genet J M Wesselink P R Thoden van Velzen S K | 1986 | Int Endod J1986，19，5： | 1 |
| 9 | 大别山区痴呆病病因的遗传学研究显示文摘 | Station of Sanitation and Bpedemic Prevention of Anching District Anhni ProvinceInstitute of Genetics of Fu Dan University ShanghaiThe Sixth People’s Hospital of Shanghai | 1979 | 遗传学报1979，，03： | 1 |
| 10 | Use of array genomic hybridization technology in prenatal diagnosis in Canada显示文摘 | Duncan A Langlois S SOGC Genetics Committee CCMG Prenatal Diagnosis Committee | 2011 | J Obstet Gynaecol Can2011，33，12： | 1 |
| 11 | A BAC pooling combined with PCR-based screenings in a large, repetitive genome enables integration of the maize and physical maps显示文摘 | Yim Y strategy highly genetic S Moak P Sanehez-Villeda H et d | 2007 | BMC Genomics2007，8，： | 1 |
| 12 | Cross-coupling of arenediazonium tetrafluoroborates with arylboronic acids catalysed by palladium显示文摘 | Darses S Jeffery T Genet J P | 1996 | Tetrahedron Letters1996，37，22： | 1 |
| 13 | Effect of copper on growth in cucumber plants (Cucumis sativus) and its relationships with carbohydrate accumulation and change in ion contents 显示文摘 | BADR A S GENET P FLORENCE V D | 2004 | Plant Science2004，166，5： | 1 |
| 14 | Alteration in antioxidant enaymes and oxidative damage in experimental diabetic rat tissues:effect of varLadate and fenugreek ( Trigonellafoenum graceum ) 显示文摘 | Genet S Kale RK Baquer NZ | 2002 | Mol Cell Biochem2002，236，12： | 1 |
| 15 | Low-temperature oxidation of CO over gold supported on TiO2,α-Fe2O3,and Co3O4显示文摘 | HARUTA M TSUBOTA S KOBAYASHI T KAGEYAMA H GENET M J DELMON B | 1993 | J Catal1993，144，1： | 1 |
| 16 | Alterations in anti -oxidant enzymes and oxidative damage in experimental diabetic rat tissue effect of vanadate and fenug reek (Trigonella Foenum Graecum) 显示文摘 | GENET S KALE R K BAQUER N Z | 2002 | Cell Biochem2002，236，： | 1 |
| 17 | Alterations in antioxidant enzymes and oxidative damage in experimental diabetic rat tissue:effect of vanadate and fenugreek(Trigogellafoenumgraecum) 显示文摘 | Genet S Kale RK Baquer NZ | 2002 | Mol Cell Biochem2002，236，12： | 1 |
| 18 | Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies 显示文摘 | IL6R Genetics Consortium Emerging Risk Factors Collaboration SARWAR N BUTTERWORTH A S | 2012 | Lancet2012，379，9822： | 1 |
| 19 | Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants显示文摘 | Myocardial Infarction Genetics Consortium Kathiresan S Voight BF | | Nature Genetics0，，： | 1 |
| 20 | Useof array genomic hybridization technology in prenataldiagnosis in Canada显示文摘 | Duncan A Langlois S SOGC Genetics Committee | 2011 | J Obstet Gynaecol Can2011，33，12： | 1 |
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