Objective:To explore the clinical application value of multiple cytogenetic and molecular genetic techniques in the diagnosing of chromosomal microstructural abnormalities.Methods:The proband was a 30-year-old man. He went to Reproductive Medicine Center of Shenzhen Zhongshan Urology Hospital in July 2021 because of a 7-year history of primary infertility. Chromosome karyotype was analyzed by conventional G-banding technique. One case was found to be suspected of microstructural aberration in X chromosome. The origin and structural characteristics of this X chromosome structural aberration was identified by high-resolution G-banding, copy number variation sequencing (CNV-seq), C-banding and fluorescence in situ hybridization (FISH). The pregnancy outcome of this case was followed up. Results:Conventional G-banding karyotype of peripheral blood lymphocytes was initially diagnosed as 46, Y, ?inv(X)(p22.3p22.2). The final karyotype of proband was interpreted as 46, Y, der(X) t(X; Y)(p22.3; q12) mat by high-resolution G-banding karyotype analysis, CNV-seq, C-banding analysis and FISH detection. His spouse had conceived singleton pregnancy via in vitro fertilization and embryo transfer. Prenatal diagnosis had been performed. Karyotype of amniotic fluid was 46, X, der(X) t(X; Y)(p22.3; q12) pat. No structural malformation was detected prenatally by ultrasound. The neonate was phenotypically normal one month after birth. Conclusion:The combined application of multiple cytogenetic and molecular genetic techniques can provide a reliable technical platform for characterizing the microscopic structural aberrations of chromosomes, and an important genetic basis for exploring the phenotype, prognosis and offspring risk of such patients.

Objective:To explore the clinical application value of multiple cytogenetic and molecular genetic techniques in the diagnosing of chromosomal microstructural abnormalities.Methods:The proband was a 30-year-old man. He went to Reproductive Medicine Center of Shenzhen Zhongshan Urology Hospital in July 2021 because of a 7-year history of primary infertility. Chromosome karyotype was analyzed by conventional G-banding technique. One case was found to be suspected of microstructural aberration in X chromosome. The origin and structural characteristics of this X chromosome structural aberration was identified by high-resolution G-banding, copy number variation sequencing (CNV-seq), C-banding and fluorescence in situ hybridization (FISH). The pregnancy outcome of this case was followed up. Results:Conventional G-banding karyotype of peripheral blood lymphocytes was initially diagnosed as 46, Y, ?inv(X)(p22.3p22.2). The final karyotype of proband was interpreted as 46, Y, der(X) t(X; Y)(p22.3; q12) mat by high-resolution G-banding karyotype analysis, CNV-seq, C-banding analysis and FISH detection. His spouse had conceived singleton pregnancy via in vitro fertilization and embryo transfer. Prenatal diagnosis had been performed. Karyotype of amniotic fluid was 46, X, der(X) t(X; Y)(p22.3; q12) pat. No structural malformation was detected prenatally by ultrasound. The neonate was phenotypically normal one month after birth. Conclusion:The combined application of multiple cytogenetic and molecular genetic techniques can provide a reliable technical platform for characterizing the microscopic structural aberrations of chromosomes, and an important genetic basis for exploring the phenotype, prognosis and offspring risk of such patients.

Objective:To determine the accuracy and clinical application of donor HLA quartile genotyping based upon transplanted kidney biopsy.Methods:The clinical and follow-up data are retrospectively reviewed for 38 recipients of kidney transplantation(KT)at First Affiliated Hospital of Xi'an Jiaotong University from 2019 to 2022.They are suspected of rejection.HLA quartile genotyping of donor kidney is performed through puncture and DNA analysis by LABType SSO method.Known HLA genotypes of recipients are compared for predicting HLA genotypes of donors.Donor-specific antibody(DSA)is detected by Labscreen Single kit.And SPSS18.0 statistical software is employed for processing baseline data, donor/recipient HLA typing data, recipient DSA antibody data and transplant nephropathy parameters.Results:Among them, 12(31.58%)belonged to HLA-A, B, C, DR and DQ.Four loci are detected in 14 cases(36.84%). Three sites are detected in 10 cases(26.32%). Two sites are detected in 2 cases(5.26%)and a negative correlation exists between detected sites and transplantation time( rs=-0.707, P=0.001). The detection rate of HLA loci is 78.94%(30 cases). B: 65.78%(25 cases); C: 84.21%(32 cases); DR: 57.89%(22 cases); DQ: 100% (38 cases); HLA sites detected in puncture tissue are 89.47% consistent with the results of donor whole blood test, among which HLA-C and HLA-DQ sites are 100% consistent and HLA-A and HLA-B sites 87.50% and 90% consistent and HLA-DR sites 66.7% consistent( P<0.01). Spearman's rank correlation analysis indicated that pathological diagnosis of interstitial inflammation( rs=-0.432, P=0.017), renal tubule atrophy( rs=-0.587, P=0.001)and interstitial fibrosis( rs=-0.560, P=0.001)are correlated negatively with HLA detected sites in transplanted kidney puncture tissue.DSA is detected in 42.1% of recipients and 68.75% of recipients belonged to HLA-DQ. Conclusions:HLA typing results of puncture tissue are consistent with those of whole blood test.Time after transplantation, infiltration of transplanted nephritis cells and degree of fibrosis may influence the detection of HLA loci.Donor HLA quartile genotyping using transplanted kidney biopsy has some diagnostic values for detecting the presence of DSA.