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Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome.

Huihui SUN ; Yuehua ZHANG ; Xiaojing XU ; Xiaoyan LIU ; Xiru WU

Chinese Journal of Medical Genetics.2015;32(4):457-461. doi:10.3760/cma.j.issn.1003-9406.2015.04.001

OBJECTIVETo analyze the parental origin of de novo SCN1A mutations in 22 patients with Dravet syndrome (DS).

METHODSClinical data and peripheral blood DNA of the patients and their parents were collected. SCN1A gene mutation was screened by polymerase chain reaction (PCR) and Sanger sequencing. For de novo mutations, allele-specific-PCR (AS-PCR) was used to determine their parental origins. Should the mutations be of paternal origin, semen specimen for their fathers was analyzed using PCR and Sanger sequencing for SCN1A gene mutations.

RESULTSThe parental origins of 22 de novo mutations were successfully determined by AS-PCR. Nineteen (86.4%) of the mutations had a paternal origin and 3 (13.6%) had a maternal origin. For those with a paternal origin, semen samples from 9 fathers were analyzed, but no mutation was found.

CONCLUSIONThe majority of de novo SCN1A mutations were of paternal origin. The same mutation was not found in semen samples from the fathers, for which deep sequencing may be necessary.

Adult ; Alleles ; Base Sequence ; Child, Preschool ; Epilepsies, Myoclonic ; genetics ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mutation ; NAV1.1 Voltage-Gated Sodium Channel ; genetics ; Pedigree

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25 cases with diffuse non-epidermolysis palmoplantar keratoderma from a family.

Rushan XIA ; Lijia YANG ; Dechang CHEN

Chinese Journal of Medical Genetics.2015;32(3):446-446. doi:10.3760/cma.j.issn.1003-9406.2015.03.039

Adult ; Female ; Humans ; Keratin-1 ; genetics ; Keratin-9 ; genetics ; Keratoderma, Palmoplantar ; genetics ; Male ; Middle Aged ; Pedigree

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Onset of hemangioma in a consanguineous pedigree.

Qingfeng LI ; Yanlin REN ; Junfeng LIU ; Jinli XU ; Lihua CHEN

Chinese Journal of Medical Genetics.2015;32(3):439-439. doi:10.3760/cma.j.issn.1003-9406.2015.03.038

Adult ; Consanguinity ; Female ; Hemangioma ; genetics ; Humans ; Male ; Middle Aged ; Pedigree ; Young Adult

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Congenital cataract: three cases from a family.

Li YANG ; Ling CHEN

Chinese Journal of Medical Genetics.2015;32(3):431-431. doi:10.3760/cma.j.issn.1003-9406.2015.03.037

Adolescent ; Adult ; Cataract ; congenital ; genetics ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Young Adult

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Advance in research on MECP2 corrected duplication syndrome.

Qingping ZHANG ; Xinhua BAO

Chinese Journal of Medical Genetics.2015;32(3):426-429. doi:10.3760/cma.j.issn.1003-9406.2015.03.028

Methyl-CpG-binding protein 2 gene (MECP2; OMIM 300005) is located at chromosome Xq28. Mutations of the gene including point mutation, duplication and deletion can lead to severe neurodevelopmental disorders. The disease caused by duplication of the entire MECP2 gene, named as MECP2 duplication syndrome, is mostly seen in males. The clinical manifestation of this syndrome include mental retardation, hypotonia, poor speech development, recurrent infection, progressive spasticity, epilepsy, autism or autistic features with or without midface hypoplasia. Most patients have inherited the duplication from their unaffected mothers, with only a few cases having de novo mutation. Females with duplicated MECP2 gene are typically asymptomatic because of a skewed X chromosome inactivation (XCI) pattern. Proposed mechanisms of this genomic rearrangement include fork stalling and template switching (FoSTeS) and microhomology mediated break-induced replication (MMBIR). Since no effective treatment is available for this disease, proper genetic counseling and prenatal diagnosis for the high risk families are crucial.
Animals ; Female ; Gene Duplication ; Humans ; Male ; Mental Retardation, X-Linked ; genetics ; metabolism ; Methyl-CpG-Binding Protein 2 ; genetics ; metabolism

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The role of calcium/calmodulin dependent serine protein kinase in embryonic development and related diseases.

Yaqing WANG ; Li YUAN

Chinese Journal of Medical Genetics.2015;32(3):422-425. doi:10.3760/cma.j.issn.1003-9406.2015.03.027

Calcium/calmodulin dependent serine protein kinase (CASK), which belongs to the family of membrane associated guanylate kinase (MAGUK) proteins, has several isoforms. CASK expresses differently in embryonic tissues and adult tissues. It can be modulated by phosphorylation and SUMOylation. CASK plays an important role in neural development, spermatozoal development and renal development. Dysfunction of CASK may lead to diseases. CASK is distributed extensively in the brain, regulating synapse formation. Mutation of CASK can lead to several neurologic diseases. CASK is also involved in the development and maturation of sperm and fertilization. It also can influence renal development through interaction with DLG1.
Animals ; Disease ; genetics ; Embryonic Development ; Guanylate Kinases ; genetics ; Humans

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Advance in genetic research on multiple system atrophy.

Xuan HOU ; Hong JIANG

Chinese Journal of Medical Genetics.2015;32(3):418-421. doi:10.3760/cma.j.issn.1003-9406.2015.03.026

Multiple system atrophy (MSA) is a progressive neurodegenerative disorder. Widespread presence of glial cytoplasmic inclusions is the neuropathologic hallmark of MSA. The disease has long been considered as a sporadic disorder. However, in recent years, a few familial cases of MSA have been reported, and researches have verified certain genetic variants could increase the risk of MSA. These indicated genetic factors may play an imported role in the pathogenesis of MSA. In this review, the emerging evidence in favor of genetic players in MSA is discussed.
Animals ; Gene Dosage ; Genetic Research ; Humans ; Multiple System Atrophy ; genetics

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Identification of 3 novel HLA-A alleles A*24:224, A*24:225 and A*24:257 by sequence-based typing.

Chuanfu ZHU ; Hongwei ZHANG ; Yi ZHANG ; Xiangmin NIE

Chinese Journal of Medical Genetics.2015;32(3):415-417. doi:10.3760/cma.j.issn.1003-9406.2015.03.025

OBJECTIVETo verify 3 novel HLA-A alleles A*24:224, A*24:225 and A*24:257 identified in Chinese Han individuals.

METHODSNo full matched results were obtained at HLA-A locus in HLA typing for China Marrow Donor Program (CMDP) using bi-allelic Sequence-Based Typing (SBT). The novel HLA alleles were identified with allele-specific amplification SBT.

RESULTSAll of the three probands had a novel nucleotide sequence at HLA-A locus. All of the 3 new sequences are most close to HLA-A*24:02:01:01 except for 1 or 2 nucleotide substitution in exon 2, which resulted in different changes in corresponding codons and encoded amino acids.

CONCLUSIONThree novel HLA-A alleles were confirmed and officially named as HLA-A*24:224, HLA-A*24:225 and HLA-A*24:257 under the GenBank accession numbers JQ899198, JQ924283 and HG003642 by the WHO Nomenclature Committee for Factors of the HLA System in November 2012 and November 2013, respectively.

Alleles ; Asian Continental Ancestry Group ; ethnology ; genetics ; Base Sequence ; China ; ethnology ; Genetics, Population ; HLA-A24 Antigen ; genetics ; Histocompatibility Testing ; Humans ; Molecular Sequence Data ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA

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Genetic polymorphisms of 30 InDel loci in Chinese ethnic population residing in Tibet.

Rufeng BAI ; Yaju LIU ; Lizhe JIANG ; Xiaojiao LYV ; Meisen SHI

Chinese Journal of Medical Genetics.2015;32(3):410-414. doi:10.3760/cma.j.issn.1003-9406.2015.03.024

OBJECTIVETo analyze the genetic data of 30 insertion and deletion polymorphisms (InDel) loci included in an InvestigatorR DIPplex diagnostic kit, and to evaluate the forensic application in ethnic Tibetan population from China.

METHODSBy detecting 226 unrelated individuals with the Investigator(R) DIPplex kit, allelic frequencies and population genetics parameters of the 30 InDels were statistically analyzed and compared with available data derived from other populations from various regions.

RESULTSAfter the Bonferroni correction at a 95% significance level (P=0.0017), no significant departures from the Hardy-Weinberg equilibrium were observed except for the HLD114 locus. Linkage disequilibrium test showed no significant allelic association between all 30 loci after the Bonferroni's correction. The average heterozygosity (Ho) of all loci was 0.4125, the mean discrimination power (DP) was 0.5618, the mean polymorphism information content (PIC) was 0.3280, and the combined discrimination power (TDP) was 0.999999999990. The combined power of exclusion of all loci was 0.987 849 91 in trio cases and 0.94977125 in duo cases. Genetic distance between Tibetan and Han from Beijing was minimum (0.0068) in the 5 populations, while genetic distance between Tibetan and Uygur was maximal (0.0215).

CONCLUSIONMultiplex detection has revealed that these 30 InDel loci have a moderate distribution of genetic polymorphism among ethnic Tibetan group residing in Tibet, China.

Adult ; Asian Continental Ancestry Group ; ethnology ; genetics ; Female ; Gene Frequency ; Humans ; INDEL Mutation ; Linkage Disequilibrium ; Male ; Middle Aged ; Polymorphism, Genetic ; Tibet ; ethnology ; Young Adult

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Association of IFNγ gene Tag single nucleotide polymorphisms and HBV infection in ethnic Dai and Hani populations from Yunnan.

Jianmei GAO ; Huaxing LIU ; Jinli WANG ; Rongxia ZUO ; Xinming YAN

Chinese Journal of Medical Genetics.2015;32(3):405-409. doi:10.3760/cma.j.issn.1003-9406.2015.03.023

OBJECTIVETo assess the association of interferon gamma gene (IFNγ ) tag single nucleotide polymorphisms (Tag SNPs) with hepatitis B virus (HBV) infection in ethnic Dai and Hani minorities from Xishuangbanna, Yunnan.

METHODSPeripheral blood samples were collected from 300 Dai minorities and 300 Hani minorities, each included 100 healthy controls and 200 HBV infected individuals (including 100 spontaneous recovery subjects and 100 chronic HBV infected patients). Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDITOF-MS) was used to determine the Tag SNPs of IFNγ gene. Haplotypes were constructed.

RESULTSIn Hani and Dai minorities, the frequencies of rs1861494 CC genotype in HBV infected group was significantly higher than the healthy group (Dai: χ2=10.017, P=0.001; Hani: χ2=6.515, P=0.039), and there was a significant difference between the HBV infected group and the control group under the C allele recessive mode (CC/TC+TT) (Dai: P=0.035, OR=9.567, 95%CI: 1.166-78.499; Hani: P=0.027, OR=5.484, 95%CI: 1.216-24.726). In Dai minorities, the frequencies of rs2069705 CC genotype and C allele in chronic HBV infected group was significantly higher than the spontaneous recovery group (genotype: χ2=8.112, P=0.017; allele: χ2=4.066, P=0.044), and there was a significant difference between chronic HBV infected group and spontaneous recovery group under the C allele recessive mode (CC/CT+TT) (P=0.013, OR=0.341, 95%CI: 0.146-0.796).

CONCLUSIONAbove results suggested that the rs1861494 CC genotype of the IFNγ gene has conferred an increased risk for HBV susceptibility in both Dai and Hani minorities. In addition, the rs2069705 CC genotype may be a risky factor for Dai minorities to develop chronic HBV infection.

Adult ; Alleles ; Asian Continental Ancestry Group ; ethnology ; genetics ; China ; ethnology ; Female ; Genetic Predisposition to Disease ; ethnology ; Genotype ; Hepatitis B ; ethnology ; genetics ; virology ; Hepatitis B virus ; physiology ; Humans ; Interferon-gamma ; genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Risk Factors ; Young Adult

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