OBJECTIVE: To explore the clinical features and genetic variants in two children with neonatal severe hyperparathyroidism (NSHPT). METHODS: Two children who were diagnosed with NSHPT at the Children's Hospital Affiliated to Xi'an Jiaotong University respectively in August 2019 and April 2022 were selected as the study subjects. Clinical data were collected, and both children were subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. RESULTS: The main clinical features of the two children have included growth delay, hypotonia, hypercalcemia, hypophosphatemia, hyperparathyroid hormonemia, and renal calcium deposition. WES results showed that child 1 has harbored a homozygous c.1378_1G>A splicing variant of the CASR gene, which was unreported previously, whilst child 2 has harbored a homozygous c.2038C>T missense variant of the CASR gene, which was known to be likely pathogenic. Sanger sequencing confirmed that the parents of both children were heterozygous carriers. CONCLUSION The homozygous c.1378_1G>A and c.2038C>T variants of the CASR gene probably underlay the NSHPT in the two children. Discovery of the c.1378_1G>A variant has enriched the mutational spectrum of the CASR gene.
Humans ; Child ; Mutation ; Homozygote

PURPOSE: The beta-adrenoceptors are pharmacologically classified into beta1-, beta2- and beta3-adrenoceptor. The gene of each subtype has polymorphisms related to their function (beta1-adrenoceptor: Ser49Gly, beta2- adrenoceptor: Gln27Glu, beta3-adrenoceptor: Trp64Arg). The objectives of this study were to analyse the allelic and genotypic distribution of the representative polymorphism of beta-adrenoceptors in preeclampsia and to investigate whether combined genotype of beta-adrenoceptors may be associated with preeclampsia. METHODS: Blood samples were collected from a Korean population (159 preeclamptic pregnancies and 168 normotensive pregnancies). The beta1-, beta2- and beta3-adrenoceptor genotypes was determined using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: There were no differences in allelic and genotypic distribution of beta1- and beta2-adrenoceptor polymorphisms between the two groups. However, the Arg allele of beta3-adrenoceptor polymorphism were more frequent in preecalmpsia than in controls (P<0.05, OR=1.57, 95% CI=1.01-2.46). Moreover, prevalence of genotype carrying heterozygote of beta3-adrenoceptor polymorphism was increased in preeclampsia compared with controls (P<0.05, OR 1.76, 95% CI 1.06-2.92). When combination of the three polymorphisms were evaluated, pregnancies with the particular combined genotype that is consisted of heterozygote of beta1-, beta3-adrenoceptor and wild homozygote of beta2-adrenoceptor (Ser/Gly, Gln/Gln, Trp/Arg), showed a significant increase in the risk of preeclampsia (P<0.05, OR=3.01, 95% CI 1.12-8.08). CONCLUSION: A particular combined genotype (Ser/Gly, Gln/Gln, Trp/Arg) of - adrenoceptors was associated with the risk of preeclampsia.
Alleles ; Genotype ; Heterozygote ; Homozygote ; Pre-Eclampsia* ; Pregnancy ; Prevalence ; Receptors, Adrenergic

OBJECTIVE: To assess the association of c.109G>A (p.V37I) variant of the GJB2 gene and its types with the risk of deafness. METHODS: PubMed, Embase, Cochrane Library, CNKI, Wanfang, and VIP database were searched for cases with GJB2 gene c.109G>A (p.V37I) variant and its compounds with variants of other sites from case-control studies, cohort studies and cross-sectional studies. The search time was from the establishment of database to April 2021. Two researchers have independently screened the literature according to the inclusion and exclusion criteria, extracted the data, and evaluated the included studies according to the criteria. Stata 12.0 software was used for the meta-analysis and publication bias analysis, and a sensitivity analysis was also carried out when necessary. RESULTS: A total of 22 articles (17 in English and 5 in Chinese) were included. There were 7455 cases in the deafness group and 10 464 cases in the control group. The results of meta-analysis showed the c.109G>A (p.V37I) variant to be strongly associated with the risk of deafness (OR: 3.56, 95%CI: 2.31-5.47, P < 0.001). Analysis based on the mutational type also suggested c.109G>A (p.V37I) homozygosity (OR: 11.36, 95%CI: 5.93-21.74, P < 0.001) and compound loss of heterozygosity mutations (OR: 9.27, 95%CI: 3.97-21.64, P < 0.001) to be strongly associated with the risk of deafness. By contrast, heterozygous c.109G>A (p.V37I) variant (OR: 1.20, 95%CI: 0.72-2.00, P = 0.478) and compound heterozygous missense mutation (OR: 1.54, 95%CI: 0.98-2.44, P = 0.063) are not strongly associated with the risk. CONCLUSION The homozygous c.109G>A (p.V37I) variants of the GJB2 gene and its compound deletional mutation with another GJB2 allele can significantly increase the risk of deafness. Heterozygous c.109G>A (p.V37I) variant of the GJB2 gene or its compound with a missense mutation of another GJB2 allele do not increase the risk.
Humans ; Cross-Sectional Studies ; Alleles ; Heterozygote ; Homozygote ; Deafness/genetics*

The overall prevalence of uniparental disomy (UPD) across all chromosomes was estimated to be around one birth in 2000. To date, more than 4170 UPD cases have been registered. UPD for chromosomes 6, 7, 11, 14, 15, and 20 can result in clinically recognizable imprinting disorders due to abnormal levels of imprinted gene expression. For other chromosomes, the clinical consequences associated with UPD are not apparent, unless when a recessive genetic disorder is unmasked by UPD or regions of homozygosity (ROH). A clinical practice guideline will assist in strengthening the precise analysis and interpretation of the clinical significance of ROH/UPD. This guideline summarizes the conception, mechanism and clinical consequences of ROH/UPD, as well as the principles for data analysis, with an aim to standardize the clinical application and data interpretation.
Gene Expression ; Genomic Imprinting ; Homozygote ; Humans ; Uniparental Disomy/genetics*

with DAT-9 gene allele. And The total score of CIWA-Ar scale in the subject without DAT-9 gene allele was significantly higher than in the subject with DAT-9 gene allele. COMT: The total score of CIWA-Ar scale in heterozygote was significantly higher than in homozygote. CONCLUSION: Our results suggest the relationship between specific genetic factors and the withdrawal symptoms of alcohol dependent patients. As the candidate gene of the severity of alcohol withdrawal syndrome, DRD2 Taq1 gene was recommended.
Alcoholism* ; Alleles ; Heterozygote ; Homozygote ; Humans ; Polymorphism, Genetic ; Substance Withdrawal Syndrome*

Male ; Humans ; Azoospermia/genetics* ; Infertility, Male/genetics* ; Mutation ; Homozygote

Except for the hallux, the human toes classically present three phalanges, distal, middle and proximal. However in 5th toe, only two phalanges are frequently observed. In this condition, known as synarthrosis of the distal interphalangeal joint, the middle and distal phalanges are fused together to appear as symphalangism or biphalangeal 5th toe. Phalanges of 5th toe was investigated in 1,187 cases of Korean radiographs. The incidence of symphalangism was found to be 74% in 1,150 adult. The bilaterality was 99%. To prove proove the genetic basis of the symphalangism, pedigree studies were performed. The symphalangism of the 5th toe was supposed to be an autosomal dominant trait. As an phenotype of recessive homozygote the triphalaneal subjects were traced to investigate their families. Pedigrees of four families in which both parents had triphalangea of 5th toe showed that their offsprings always showed the triphalangea. Therefore, it suggests the symphalangism inherit as a Mendelian dominant trait and it seems to be an example of microevolution or genetic adaptation to bipedalism.
Adult ; Genetics ; Hallux ; Homozygote ; Humans ; Incidence ; Joints ; Parents ; Pedigree ; Phenotype ; Toes*

OBJECTIVE: The present study was performed to evaluate the association of p53 codon 72 polymorphism and endometriosis. MATERIALS AND METHODS: We investigate 74 women who were operated for endometriosis and 93 women who had no endometriotic lesion proved by operation. Polymerase chain reaction was used to detect p53 codon polymorphisms. Result: We have found no significant difference between endometriosis and control group in the p53 codon polymorphism. The respective proportion of arginine homozygotes, heterozygotes and proline homozygotes in endometriosis group were 18.9%, 62.2% and 18.9%, respectively, and were 12.9%, 75.2% and 11.9%, respective in the group without endometriosis. CONCLUSION: Endometriosis is not associated with p53 polymorphism in Korean endometriosis patients.
Arginine ; Codon* ; Endometriosis* ; Female ; Heterozygote ; Homozygote ; Humans ; Polymerase Chain Reaction ; Proline

OBJECTIVE: The present study was performed to evaluate the association of p53 codon 72 polymorphism and endometriosis. MATERIALS AND METHODS: We investigate 74 women who were operated for endometriosis and 93 women who had no endometriotic lesion proved by operation. Polymerase chain reaction was used to detect p53 codon polymorphisms. Result: We have found no significant difference between endometriosis and control group in the p53 codon polymorphism. The respective proportion of arginine homozygotes, heterozygotes and proline homozygotes in endometriosis group were 18.9%, 62.2% and 18.9%, respectively, and were 12.9%, 75.2% and 11.9%, respective in the group without endometriosis. CONCLUSION: Endometriosis is not associated with p53 polymorphism in Korean endometriosis patients.
Arginine ; Codon* ; Endometriosis* ; Female ; Heterozygote ; Homozygote ; Humans ; Polymerase Chain Reaction ; Proline

BACKGROUND: For HLA-DR typing, PCR-SSO (sequence specific oligonucleotide) kits are most commonly used in Korea. However, the PCR-SSO method generally shows more ambiguities than PCR-SSP (sequence specific primer) method in generic-level typing of HLA-DRB1 alleles. We evaluated the newly developed NeoDin SSP(TM) HLA-DR Typing kit based on the PCR-SSP method. METHODS: A total of 118 selected samples with known DRB1 alleles were tested with the NeoDin SSP(TM) HLA-DR Typing kit and the band patterns were interpreted by two investigators in a blind manner. RESULTS: Correct assignment of HLA-DRB1 alleles at a generic level was possible in 117 (99.2%)out of 118 samples tested. Only one sample carrying DRB1*1403 as a homozygote showed ambiguity: DR14 homozygote versus DR14, DR13. Some HLA-DR specificities (DR8, DR11-14) were dividied into 2-11 allelic groups and the typing results (allelic groups) were fully concordant with the known DRB1 allelic specificities. When a proper concentration of DNA with good purity was used, band patterns were clear and easy to read and no false positive or false negative band was observed in the DRB1 assignments. The occasional presence of 1-2 faint nonspecific bands did not much influence the correct assignments of specific bands. In a small proportion (5 samples, 4%) of samples tested, a random occurrence of PCR failure of 1-2 internal control bands was observed; however it did not affect the correct assignments of DRB1 alleles. CONCLUSIONS: When a proper concentration of DNA with good purity is used, the correct assignments of HLA-DRB1 alleles at a generic level are possible in >99% of the samples without ambiguity, using the NeoDin SSP kit.
Alleles ; DNA ; HLA-DR Antigens* ; HLA-DRB1 Chains ; Homozygote ; Humans ; Korea ; Polymerase Chain Reaction ; Research Personnel