1.Genetic linkage analysis in FAP/GS using DNA probe EF5.4(D5135).
Hyo Jong KIM ; Young Kwan KIM ; Suk Ho DONG ; Byung Ho KIM ; Jung Il LEE ; Young Woon CHANG ; Young Kil CHOI ; Ki Hyung LEE
Korean Journal of Medicine 1993;45(3):361-368
No abstract available.
DNA*
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Genetic Linkage*
2.Fine mapping of multiple interacting quantitative trait loci using combined linkage disequilibrium and linkage information.
Journal of Zhejiang University. Science. B 2007;8(11):787-791
Quantitative trait loci (QTL) and their additive, dominance and epistatic effects play a critical role in complex trait variation. It is often infeasible to detect multiple interacting QTL due to main effects often being confounded by interaction effects. Positioning interacting QTL within a small region is even more difficult. We present a variance component approach nested in an empirical Bayesian method, which simultaneously takes into account additive, dominance and epistatic effects due to multiple interacting QTL. The covariance structure used in the variance component approach is based on combined linkage disequilibrium and linkage (LDL) information. In a simulation study where there are complex epistatic interactions between QTL, it is possible to simultaneously fine map interacting QTL using the proposed approach. The present method combined with LDL information can efficiently detect QTL and their dominance and epistatic effects, making it possible to simultaneously fine map main and epistatic QTL.
Chromosome Mapping
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Epistasis, Genetic
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Genetic Linkage
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Humans
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Linkage Disequilibrium
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Monte Carlo Method
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Quantitative Trait Loci
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genetics
3.An Alternative Way of Constructing Ancestral Graphs Using Marker Allele Ages from Population Linkage Disequilibrium Information.
Genomics & Informatics 2009;7(1):1-12
An alternative way of constructing ancestral graphs, which is different from the coalescent-based approach, is proposed using population linkage disequilibrium (LD) data. The main difference from the existing method is the construction of the ancestral graphs based on variants instead of individual sequences. Therefore, the key of the proposed method is to use the order of allele ages in the graphs. Distinct from the previous age-estimation methods, allele ages are estimated from full haplotype information by examining the number of generations from the initial complete LD to the current decayed state for each two variants depending on the direction of LD decay between variants. Using a simple algorithmic procedure, an ancestral graph can be derived from the expected allele ages and current LD decay status. This method is different in many ways from previous methods, and, with further improvement, it might be a good replacement for the current approaches.
Alleles
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Family Characteristics
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Haplotypes
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Linkage Disequilibrium
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Recombination, Genetic
4.Application of Karyomapping for the prenatal diagnosis of five families affected with facioscapulohumerial muscular dystrophy type 1.
Yuting ZHENG ; Lingrong KONG ; Hui XU ; Zhouxian BAI ; Yongjie LU ; Xiangdong KONG
Chinese Journal of Medical Genetics 2019;36(3):203-206
OBJECTIVE:
To assess the value of Karyomapping for the prenatal diagnosis of facioscapulohumerial muscular dystrophy type 1 (FSHD1).
METHODS:
Peripheral blood and chorionic villi samples were collected from five families affected with FSHD1. Linkage-based diagnosis was carried out by using the Karyomapping method. Diagnosis for two fetal samples was carried out with the next-generation optical mapping system.
RESULTS:
The results of Karyomapping showed that three fetuses inherited the risky 4q35 region of the proband and two fetuses did not. The fetuses of families 1 and 2 received further diagnosis by the next-generation optical mapping system, and the results were consistent with those of Karyomapping.
CONCLUSION
Karyomapping has enabled prenatal diagnosis for the five families affected with FSHD1. The method was faster and simpler compared with conventional strategies, though its feasibility still needs further validation. Since there were no SNP loci designed on the Karyomap chip for the DUX4 gene and its 3' flanking regions, misjudgment due to chromosomal recombination could not be completely eliminated. The accuracy of this method still needs further validation.
Female
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Genetic Linkage
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Humans
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Muscular Dystrophies
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Pregnancy
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Prenatal Diagnosis
5.Advances in researches on genes and their pathophysiological implications of schizophrenia.
Feng JIANG ; Yi-lang TANG ; Zuo-ji CAI
Chinese Journal of Medical Genetics 2004;21(4):376-378
Considering the great progress in the field of molecular genetics research on schizophrenia, this review is aimed at discussing advances in genes of schizophrenia and their pathophysiological implications for the disorder.
Genetic Linkage
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Genetic Predisposition to Disease
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genetics
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Humans
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Polymorphism, Genetic
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Schizophrenia
;
genetics
6.Construction of the first genetic linkage map of Salvia miltiorrhiza Bge. using SSR, SRAP and ISSR markers.
Zong CHENG-KUN ; Zhen-qiao SONG ; Hai-mei CHEN ; Chang LIU ; Jian-hua WANG ; Lin-lin GUO ; Tian LIU ; Yu-ling PAN
Acta Pharmaceutica Sinica 2015;50(3):360-366
The first genetic linkage map of Salvia miltiorrhiza was constructed in 94 F1 individuals from an intraspecific cross by using simple sequence repeat (SSR), sequence-related amplified polymorphism (SRAP) and inter-simple sequence repeat (ISSR) markers. A total of 93 marker loci in the linkage map, consisting of 53 SSR, 38 SRAP and 2 ISSR locus were made up of eight linkage groups, covered a total length of 400.1 cm with an average distance of 4.3 cm per marker. The length of linkage groups varied from 3.3 -132 cm and each of them included 2-23 markers, separately. The result will provide important basis for QTL mapping, map-based cloning and association studies for commercially important traits in S. miltiorrhiza.
Chromosome Mapping
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Genetic Linkage
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Genetic Markers
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Microsatellite Repeats
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Polymorphism, Genetic
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Salvia miltiorrhiza
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genetics
7.Genetics of complex diseases.
Journal of Zhejiang University. Science. B 2006;7(2):167-168
Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.
Genetic Diseases, Inborn
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genetics
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Genetic Predisposition to Disease
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Genetic Techniques
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Humans
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Inheritance Patterns
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Linkage Disequilibrium
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Models, Genetic
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Polymorphism, Genetic
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Risk Factors
8.Researches on genetics and genetic epidemiology of common complex diseases: challenge and strategies.
Acta Academiae Medicinae Sinicae 2006;28(2):115-118
With the rapid development of human genome project, increased genetic and population-based association studies are focused on the identification of the underlying susceptibility genes and contributions from gene-environment interaction to common complex diseases. Whole-genome association study with high-density single nucleotide polymorphisms is one of the most important milestones in that process. However, problems still exist in study design, data processing, and results interpretation. Large-scale cohort study or population-based case-control design with sufficient statistical power, new approaches to assess the gene-gene and gene-environment interactions, as guarantee of the consistency and replicability of these researches are crucial in the exploration of the causes of these common complex diseases.
Genetic Markers
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Genetic Predisposition to Disease
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Genetics, Population
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Humans
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Linkage Disequilibrium
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Molecular Epidemiology
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Phenotype
9.Establishment of a 15 loci multiplex amplification system and the genetic poly- morphism in Xinjiang Uygur population.
Juan GUI ; Hai-Bo LIU ; Qin-Xiang LIAO ; Xu XU ; Di LU ; Li YUAN
Journal of Forensic Medicine 2015;31(1):23-27
OBJECTIVE:
To develop a five fluorescence-labeled multiplex amplification system for 15 loci and study genetic polymorphism in Xinjiang Uygur population.
METHODS:
The STR loci were screened. The alleles were named according to the number of repeats by sequencing. The sensitivity, species specificity, identity and stability of the five fluorescence-labeled multiplex amplification system for the 15 loci were all tested. Then, the genetic polymorphism was analyzed in Xinjiang Uygur population and compared with other ethnic groups including Xizang Tibetan, Xiuyan Manchu, and Guangzhou Han population.
RESULTS:
The 15 loci multiplex amplification system was established. The sensitivity was 0.3 ng with good species specificity, identity and stability. The distributions of genotype for 13 STR loci in Uygur population were in accordance with Hardy-Weinberg equilibrium with no genetic linkage between these loci. Most loci showed statistically significant among different populations.
CONCLUSION
The established system has application value in forensic evidence. The 13 STR loci in Uygur population have
Alleles
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Ethnicity/genetics*
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Gene Frequency
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Genetic Linkage
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Genotype
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Humans
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Multiplex Polymerase Chain Reaction/methods*
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Polymorphism, Genetic
10.Polymorphisms of D17S1878 and D17S932 on the Chromosome 17 and risk of essential hypertension..
Ling-Yu FU ; Yan-Yan ZHAO ; Jing-Pu SHI ; Jing-Yu LÜ ; Xiao-Liang LIU ; Miao LI
Chinese Journal of Cardiology 2008;36(10):878-882
OBJECTIVESTo identify the possible relationship between polymorphisms of D17S1878 and D17S932 on the Chromosome 17 and risk of essential hypertension (EH).
METHODSThe polymorphisms of D17S1878 and D17S932 were genotyped using Genetic Analyzer in 325 subjects from 67 Chinese families with EH in Liaoning province. The polymorphisms of D17S1878 and D17S932 sites were genotyped using Genetic Analyzer and GeneScan Software; PHASE2.1 Software was used in hyplotype analysis and affected sib pair analysis was used in linkage analysis.
RESULTS61 hyplotypes were found in the study population with 272 hypertensive and 53 normotensive subjects and the frequency of haplotype H1 [(CA)(18)/(CA)(11)] in the hypertensive (15.4%) was significantly higher than that in the normotensive (6.3%, P < 0.05). Affected sib pair analysis could be applied in 180 subjects, the t values of the D17S1878 and D17S932 were 1.88 and 3.95, respectively (both P < 0.05) suggesting that the transitivity and consistency of the D17S1878 and D17S932 in sib pairs from the pedigrees were higher than expected (25%).
CONCLUSIONThe polymorphisms of D17S1878 and D17S932 were possibly linked with predisposing genes of essential hypertension.
Chromosomes, Human, Pair 17 ; Genetic Linkage ; Genotype ; Humans ; Hypertension ; epidemiology ; Polymorphism, Genetic