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OBJECTIVE@#To explore the methods for identification of sibling brothers with Y-STR locus mutation by detection of genetic markers on autosome and Y-biallelic.@*METHODS@#Goldeneye 20A and 18NC kit were used to genotyped the 35 STRs on autosome from two men. PowerPlex Y kit and Yfiler kit were used to genotyped the 16 STRs on Y chromosome full sibling index was calculated by ITO method. Twenty Y-biallelic markers were genotyped by fragment length discrepant allele specific PCR or general PCR.@*RESULTS@#Relationship of sibling brothers was found to have mutation of 2 loci on 16 Y-STR and the identical genetype of 20 Y-biallelic markers as well as a cumulative full sibling index of 4.3149 x 10(6) from 35 STRs on autosome.@*CONCLUSION@#In identification of paternal linage of Y-STR mutation, more genetic information can be acquired by detection of Y-biallelic markers including SNP and InDel.
Subject(s)
Humans , Male , Alleles , Chromosomes, Human, Y/genetics , Forensic Genetics/methods , Gene Frequency , Genetic Loci/genetics , Genetic Markers , Genotype , Microsatellite Repeats/genetics , Mutation , Polymerase Chain Reaction/methods , Polymorphism, Genetic , SiblingsABSTRACT
AIM: To investigate the alterations of tear film after sutureless large incision manual cataract extraction (SLIMCE). METHODS: Sixty-eight SLIMCE operation eyes were studied with slit-limp microscope, break- up time (BUT), SchirmmerⅠtest (SⅠt),and fluorescence(FL) to observe the alterations of tear film at different time points in postoperation. Impression cytology and microphoto-analyses technique were also applied to observe the goblet cells at different time points postoperation(7,14,30,60,90 days). RESULTS: Subjective complaint of dry eye within 90 days after the operations were significantly increased compare with preoperations(5-27,23,19,16,13; 2-16,14,8,6,3). The schirmmer Ⅰ test were greatly increased in 14 days postoperation(10.1±4.5;15.0±4.7,13.8±5.7),the mean scores of fluorescence increased (0-17,9,5;0-8,3,1) and the mean break-up time decreased in 30 days post-operation(10.3±2.2;5.5±2.3,7.0±2.4,7.9±2.2) (P<0.05). CONCLUSION: SLIMCE operation have effect on the stability of tear film.
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AIM: To evaluate the efficacy and safety of two different surgical techniques on congenital cataract on children.METHODS: Twenty-two children (1-3 years old) with congenital cataract were randomly divided into two groups (group A and group B). With group A (10 patients, 20 eyes), we applied 23-gauge (23G) trans corneal limbus vitrectomy system to complete lens cortex gettering, posterior capsulotomy and anterior vitrectomy；With group B (12 patients, 24 eyes), we used the phacoemulsification I/A to complete lens cortex gettering, and performed anterior vitrectomy with anterior vitreous cutting instrument. After that, the differences in intraoperative and postoperative complications between two groups were compared. RESULTS：In group A, the width of corneal limbal incision was 0.6mm, the incision was self-sealing, and the anterior chamber was stable and iris did not prolapse during the surgery. In group B, the width of corneal limbal incision was 3mm, anterior chamber was unstable and intraoperative iris prolapse occurred in 14 eyes (58%). And the incision need to be stitched up after surgery. In the postoperative follow-up of 6-24 months (an average of 14 months), we found that corneal neovascularization did not occur in group A, while in group B, corneal neovascularization occurred in four eyes (17%); Other complications, such as posterior capsular opacification，retinal detachment, glaucoma, hypotony or endophthalmitis did not occur in either group.CONCLUSION: The 23G trans corneal limbus vitrectomy system used in pediatric cataract surgery is safer and more effective than phacoemulsification I/A. It is promising in treatment of congenital cataract on children.
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<p><b>OBJECTIVE</b>To explore the genetic variations of HLA-Cw and 5 KIR2D loci in 2 Chinese Han populations residing at Southern and Northern mainland China, respectively, and to investigate the HLA-Cw polymorphism of a Mongolian Chinese population.</p><p><b>METHODS</b>HLA-Cw genotyping was performed in a total of 293 healthy individuals including 1 Southern Han population living in Hunan Province (n=112), 1 Northern Han population (n=98) and 1 Mongolian Chinese population(n=83) in the Inner Mongolia Autonomous Region, using polymerase chain reaction-sequence specific primer(PCR-SSP) technique. Dimorphism at residue 80 of domain in the HLA-Cw molecule was examined by an additional set of PCR-SSP reactions. PCR-SSP was also used to detect the presence or absence of inhibitory KIR2DL1/2DL2/2DL3 loci and activating KIR2DS1/2DS2 loci for the 2 Han populations.</p><p><b>RESULTS</b>The main findings were: (1) Very significant frequency difference in the HLA-Cw alleles and dimorphism at codon 80 was detected between Hunan Han and Northern Han population, and between Hunan Han and Mongolian population (P < 0.001),while there was no such difference between the 2 Northern Chinese populations (P> 0.05); (2) There was no significant difference in frequencies of either the 5 individual KIR2D genes or the genotype distributions between the 2 Han populations (P> 0.05); (3) Asn(80)ls/Asn(80), 2DL1+/2DL2-/2DL3+/2DS1-/2DS2- predominated in both Han populations (45/112, 29/98), followed by Asn(80)/Asn(80), 2DL1+/2DL2-/2DL3+/2DS1+/2DS2- (18/112,16/98) and Asn(80)/Lys(80), 2DL1+/2DL2-/2DL3+/2DS1-/2DS2-(11/112,17/98). Among the 12 types of HLA-Cw codon 80 and KIR2D combinations, only Lys(80)/Lys(80), 2DL1+/2DL2-/2DL3+/2DS1-/2DS2- showed marginally significant frequency difference between the 2 Han populations(1/112 vs 8/98; Fisheros P was 0.0134).</p><p><b>CONCLUSION</b>Our study provided the polymorphism data of HLA-Cw gene for 3 Chinese populations with different geographic and/or ethnic background, we further analyzed the distribution of 5 KIR2D receptor genes in 2 Han populations. Our data suggest that in spite of HLA-Cw heterogeneity, remarkable similarities may exist between the Southern and Northern Chinese Han populations at the combinational level of HLA-Cw and KIR2D, which are characterized by preponderant inhibitory signal pathways.</p>