Case-control studies are widely used for disease gene mapping using individual genotyping data. However, analyses of large samples are often impractical due to the expense of individual genotyping. The use of DNA pooling can significantly reduce the number of genotyping reactions required; hence reducing the cost of large-scale case-control association studies. Here, we discuss the design and analysis of DNA pooling genetic association studies.
Case-Control Studies* ; Chromosome Mapping ; DNA* ; Genetic Association Studies

OBJECTIVETo understand the allele structure and genetic polymorphism at D3S1358, D13S317, D5S818 short tandem repeats (STRs) loci in Nongqu Mongolian of China, and to construct a preliminary database.

METHODSThe allele frequencies of the three STRs loci in 291 unrelated individuals from Nongqu Mongolian were analyzed by polymerase chain reaction and polyacrylamide gel electrophoresis.

RESULTSSix, ten, and eight alleles were observed at D3S1358, D13S317, D5S818, respectively, and all 3 loci met Hardy-Weinberg equilibrium. The statistical analysis of 3 STR loci showed the heterozygosity >or=0.7332, the polymorphic information content >or=0.6884; the combined discrimination power and the probabilities of paternity exclusion were 0.9991 and 0.9806 respectively.

CONCLUSIONAll three of the loci in this study were found to have high heterozygosity and polymorphic information content, so they could provide useful markers for genetic purposes. These results could serve as valuable data to enrich the Mongolian genetic database and play an important role in Chinese population genetic application.

Chromosome Mapping ; Humans ; Mongolia ; ethnology ; Polymorphism, Genetic ; Tandem Repeat Sequences

OBJECTIVETo elucidate the development of mapping and localization of susceptible genes on chromosomes to asthma related phenotypes.

DATA SOURCESPublished articles about susceptibility genes for asthma related phenotypes were selected using PubMed.

STUDY SELECTIONUsing methods of candidate gene positional clone and genome-wide scan with linkage and association analysis to determine the location in the genome of susceptibility genes to asthma and asthma related phenotypes.

RESULTSThere are multiple regions in the genome harboring susceptibility genes to asthma and asthma related phenotypes, including chromosomes 5, 11, 12, 6, 2, 3, 13, 7, 14, 9, 19 and 17. Many of these regions contain candidate genes involved in asthma development and progression. Some susceptible genes may affect the phenotype expression or response to therapy. In addition, the interaction of multiple genes with the environment may contribute to the susceptibility to asthma.

CONCLUSIONSAs an essential step toward cloning the susceptible genes to asthma, fine mapping and localization on chromosomes are definitely needed. Novel powerful tools for gene discovery and the integration of genetics, biology and bioinformatics should be pursued.

Asthma ; genetics ; Chromosome Mapping ; methods ; Genetic Predisposition to Disease ; genetics ; Humans

Tic disorder (TD) is a chronic neuropsychiatric disorder with childhood onset. Previous research has demonstrated that genetic factors play an important role in the pathogenesis of TD, and TD is a complex disease affected by multiple genes. Many susceptibility genes have been identified and the relationship between these genes and the etiology of TD was investigated in the past few years. These researches have yielded large valuable information as well as provided a reference for understanding the pathogenesis and further research of this disease. In this paper we reviewed the recent progress in the study on the susceptibility gene mapping of TD.
Chromosome Mapping ; Genetic Predisposition to Disease ; Humans ; Tic Disorders ; genetics

Chromosome Mapping ; Genome-Wide Association Study ; methods ; Humans

Single nucleotide polymorphisms (SNPs) is a new genetic marker system following RFLP and microsatellite polymorphism. It has been shown to have the characteristics of high-density, inheritance stability and facilitation in analysis automation. SNPs can be detected by electrophoresis, endonuclease-cleavage, PCR and sequencing, and can be used extensively in gene mapping, disease-correlativity analysis, population genetics and drug research.
Chromosome Mapping ; Genetic Markers ; Genetics, Population ; Humans ; Polymorphism, Single Nucleotide

About 10%-15% of azoospermic and 5%-10% of severely oligozoospermic men with idiopathic infertility have Yq microdeletions which could be transmitted to their male offspring by means of ICSI. We review present studies about Yq microdeletions including incidence, region, correlations between genotype and phenotype, the mechanism of Yq deletions and try to further understand the cause of male infertility as well as provide a new way for diagnosis and therapy.
Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Y ; genetics ; Genotype ; Humans ; Infertility, Male ; genetics ; pathology ; Male ; Phenotype ; Sex Chromosome Aberrations

OBJECTIVETo perform cytogenetic analysis for children, especially newborns suspected for chromosome abnormalities.

METHODSPeripheral blood or born marrow specimens were respectively cultured in proper media. Karyograms were analyzed following G-banding.

RESULTSOf 154 blood specimens, numerical chromosomal abnormalities were identified in 20 patients, which included 19 with trisomy 21. Structural aberrations were identified in 13 patients, among which chromosome 9 aberrations were seen in 6 cases. These included 3 inversions, 1 deletion, 1 insertion and 1 duplication. All aberrations were located in pericentromere region of chromosome 9 with clinical manifestations including congenital heart disease, peculiar facial appearance, paralysis, dysplasia and/or movement disorder. Chromosome polymorphisms were found in 20 patients, most of which had absence of satellites or variation of heterochromatin on chromosome 9. Of 10 bone marrow specimens from children suspected for acute leukemia, chromosome abnormalities were identified in 5 patients.

CONCLUSIONCytogenetic analysis is useful for children featuring multiple congenital abnormalities. Chromosome 9 abnormalities and their clinical relevance should attract more attention.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; epidemiology ; Chromosomes, Human, Pair 9 ; Humans ; Infant ; Infant, Newborn ; Physical Chromosome Mapping ; Prevalence

Abnormalities, Multiple ; genetics ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Pair 9 ; genetics ; Growth Disorders ; genetics ; Humans ; Infant, Newborn ; Male

Varying degrees of necrozoospermia are common findings in cases of male sub-fertility; however, it is rare to find persistent and 100 % necrozoospermia. A case of persistent 100 % necrozoospermia was presented in this paper, where aneuploidy analysis was carried out on sperm. No known associations like thyrotoxicosis, genital infection, spinal injury and diabetes were found. Sperm fluorescent in situ hybridization (FISH) was carried out to evaluate sperm aneuploidy for chromosome 1, 9, 12, 13, 16, 18, 21, X and Y and did not show any excess of aneuploidy over controls. To the best of our knowledge, this is the first attempt on meiotic segregation analysis on 100 % necrozoospermic patients.
Adult ; Aneuploidy ; Chromosome Mapping ; Chromosome Segregation ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Meiosis ; Necrosis ; Oligospermia ; genetics ; pathology ; Spermatozoa ; pathology