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PubMed2000

[Genetic analysis of sow productivity traits].

Genetic analysis was conducted on the data of 3 populations with 1686 litters including Erhualian pigs, Large White and first cross. The phenotypic and genetic parameters among litter weight at birth (LW), average piglet weight at birth (APW), litter weight at 20 days (LW20), average piglet weight at 20 days (APW20), litter weight at 45 days (LW45), average piglet weight at 45 days (APW45) were estimated by sire model. The results indicated that Erhualian pigs had stronger maternal ability and slower growth rate compared to Large White. The first four traits (LW, APW, LW20, APW20) had larger maternal effects, while LW45 and APW45 had smaller maternal effects. The heritabilities of LW, APW, LW20, APW20, LW45, APW45 were 0.251, 0.277, 0.341, 0.330, 0.235, 0.186, respectively. The results indicated that direct selection was effective. According to our results, we considered that it was fit to select two traits (LW, LW20) out of these six traits to reflect sow productivity. Litter weight at birth could reflect the prolificacy of sow, litter weight at 20 days could reflect the maternal ability of sow.

Animals↗
PubMed2006

Genetic analysis.

The Mendelian analysis of genetic variation, available as induced mutants or as natural variation, requires a number of steps that are described in this chapter. These include the determination of the number of genes involved in the observed trait's variation, the determination of dominance relationships between alleles of the same locus, and epistatic interactions with related genetic variants. A new variant should be compared with previously identified genetic variants, which is most efficiently done by allelism tests in case of recessive mutants. In addition the locus should be localized on the genetic and physical map by linkage analysis. The mapping of mutant loci in Arabidopsis is facilitated by the genomic resources available in Arabidopsis and often consists of two steps, a crude and a fine mapping, the latter enabling the approximate location of a variant on the sequence map of Arabidopsis.

Alleles↗
PubMed2000

Molecular genetic analysis of archival gliomas using diagnostic smears.

Investigation of the clinical significance of genetic alterations in gliomas requires molecular genetic analysis using samples from retrospective or prospective clinical studies. However, diagnostic tissue is often severely limited and because of fixation, paraffin-embedded tissues (PET) contain degraded DNA. Intra-operative cytological preparations (smears) archived after diagnosis may represent an additional source of clinical material for genetic analysis. In this study, tissue samples were obtained by precision microdissection of archived diagnostic smears from 20 cases (1961-1999). All samples produced polymerase chain reaction (PCR) products for the beta globin gene, but the most recent samples amplified best and gave longer amplimers. For six cases, direct comparison was made between samples microdissected from smears and the corresponding PET. Samples from smears showed improved PCR performance and similar alleles on microsatellite marker analysis. One case, with smears of uninvolved cortex and tumour tissue available for microdissection, showed allelic imbalance at 10q23 on the basis of the smear results alone. PCR products from smears were shown to be suitable for direct sequence analysis (p53 gene). A PTEN mutation, found previously in an anaplastic astrocytoma by analysis of PET, was detected in the corresponding diagnostic smear. The results of this study indicate that tissue samples microdissected from diagnostic intra-operative cytological preparations may be suitable for molecular genetic analysis of gliomas.

Archives↗
PubMed1980

[Genetic analysis of the structure of connections between certain physiologic traits. I. Analysis of arterial pressure indices].

Genetic analysis of the structure of phenotypical correlatin between systolic and diastolic blood pressure (BP) was carried out on a twin sample (72MT, 122 - of the same sex and 79 - of different sexes DT at the age of 18-40) taken from the Twin Register of the Institute of Medical Genetics, Academy of Medical Sciences of the USSR. Because of heterogeneity of general dispersions of ABP characteristics in different twin subgroups, the method is suggested of a correction of coefficient values of interclass correlation which for the systolic ABP was rMT=0.558, rDT=0.252, and for the foastolic ABP was rMT=0.454, rDT=0.271. Estimations of heritability were 0.612 for systolic and 0.365 for diastolic ABP. There was observed a significant genetic correlation in ABP characteristics which made ra=0.76; the correlation conditioned by general environmental factors being re=0.69. Thus, 76% of genetic and 69 environmental factors, determining the levels of systolic and diastolic ABP were general. The significance was discussed of the obtained results in the light of physiological pharmacological and clinical data.

Adult↗
PubMed2000

The future of genetic analysis of neurological disorders.

Molecular genetic analysis has allowed the elucidation of the etiology of many single-gene, neurodegenerative syndromes. However, as yet, it has had little direct impact on our understanding of the etiology in cases with more complex modes of inheritance. With the completion of the sequence of the human genome, it should be possible to start to attack these more complex problems. In this article, we review the genetic methods that may be used to dissect the etiologies of these diseases and outline what types of clinical samples will be needed for this quest.

Animals↗
PubMed1998

Genetic analysis of protein tyrosine phosphatases.

Genetic analysis has enhanced our understanding of the biological roles of many protein tyrosine kinases (PTKs). More recently, studies utilizing both spontaneous mutants and mutants induced by homologous recombination techniques have begun to yield key insights into the role of specific protein tyrosine phosphatases (PTPs) and to suggest how PTKs and PTPs interact. Specific PTPs in Saccharomyces cerevesiae and Schizomyces pombe regulate MAP kinase pathways. Several Drosophila receptor PTPs control axonal targeting pathways, whereas the non-receptor PTP Corkscrew (Csw), plays an essential positive signaling role in multiple developmental pathways directed by receptor PTKs. The vertebrate homolog of Csw, SHP-2, also is required for growth factor signaling and normal development. Finally, very recent studies of other mammalian PTPs suggest that they have critical roles in processes as diverse as hematopoiesis and liver and pituitary development.

Animals↗
PubMed1976

[Genetic analysis of microcephaly].

A clinical genetic examination of 22 cases of hereditary microcephaly in 11 families was carried out. Parent consanguinity (first and second cousins) was ascertained in 7 families. Genetic analysis of the experimental material performed by Weinberg's method showed significantly recessive course of the genuine microcephaly inheritance. High frequency of low degree mental retardation (30%) among probable recessive genes carriers of microcephaly (of the parents and their siblings) was ascertained and that confirmed the possibility of gene heterozygous state manifestation. The gene frequency fluctuated from 0,0042 to 0,024. About 3500 people might show low forms of mental retardation in connection with probable non-penetration (about 30%) of the microcephaly genes being in heterozygols state.

Consanguinity↗
PubMed1994

HYPERGENE: a clinical and genetic database for genetic analysis of human hypertension.

OBJECTIVE: Genetic studies of essential human hypertension require the recording and management of numerous data concerning multiple hypertensive families. The present paper describes a new family database, HYPERGENE, and demonstrates its potential usefulness in such a complex disease. METHODS: The database was implemented on an Apple Macintosh computer using the 4TH DIMENSION software program. Through a user-friendly interface, it offers a high-quality data record, easy data retrieval and compatibility with other software. PATIENTS: HYPERGENE contains a prospective collection of 187 families with at least two hypertensive sibs (826 subjects). Each subject was analysed according to the same protocol. To allow definition of clinical and biological phenotypes and genetic analysis, clinical and biological data were recorded and, at the same time, plasma, urine and DNA libraries were stored. RESULTS: Probands were 50.6 years old with an early onset (39.1 years of age) of hypertension (157.7/97.8 mmHg); 125 had moderate-to-severe hypertension. According to our selection criteria, only one out of 187 sibships had familial dislipidaemic hypertension. Of the living fathers, 45% were examined, and 54% of the living mothers: 48.6% had an onset of hypertension before age 50 years. Children (mean age 28.7 years) of hypertensive sibs presented a high percentage of hypertension (8.3%). CONCLUSION: The HYPERGENE database facilitates data storage and analysis on familial hypertension, and should prove a useful tool for assessing molecular biology results in the field of hypertension and for allowing collaborative research.

Adolescent↗
PubMed1994

Short report: HYPERGENE: a clinical and genetic database for genetic analysis of human hypertension.

OBJECTIVE: Genetic studies of essential human hypertension require the recording and management of numerous data concerning multiple hypertensive families. The present report describes a new family database, HYPERGENE, and demonstrates its potential usefulness in such a complex disease. METHODS: The database was implemented on an Apple Macintosh computer using the 4TH DIMENSION software program. Through a user-friendly interface, it offers a high-quality data record, easy data retrieval and compatibility with other software. PATIENTS: HYPERGENE contains a prospective collection of 187 families with at least two hypertensive sibs (826 subjects). Each subject was analysed according to the same protocol. To allow definition of clinical and biological phenotypes and genetic analysis, clinical and biological data were recorded and, at the same time, plasma, urine and DNA libraries were stored. RESULTS: Probands were 50.6 years old with an early onset (39.1 years of age) of hypertension (157.7/97.8 mmHg); 125 had moderate-to-severe hypertension. According to our selection criteria, only one out of 187 sibships had familial dislipidaemic hypertension. Of the living fathers, 45% were examined, and 54% of the living mothers: 48.6% had an onset of hypertension before age 50 years. Children (mean age 28.7 years) of hypertensive sibs presented a high percentage of hypertension (8.3%). CONCLUSION: The HYPERGENE database facilitates data storage and analysis on familial hypertension, and should prove a useful tool for assessing molecular biology results in the field of hypertension and for allowing collaborative research.

Adult↗
PubMed1997

[Genetic analysis of responsible genes for essential hypertension].

Recent progress in positional cloning strategy has facilitated analysis of genes responsible for multifactorial diseases such as essential hypertension. To overcome heterogeneous characteristics in essential hypertension, several methods have been developed. Among these, linkage analysis using genetic rat models of hypertension is one of the most promising strategies. We performed linkage analysis using the most commonly used hypertensive model rat, the spontaneously hypertensive rat, finding 3 genomic regions on chromosomes 1, 3 and 10 containing the genes with putative responsibility for hypertension. Since a candidate SA gene was known to be located on chromosome 1, we evaluated this genetic locus in human essential hypertension. Unfortunately, the result did not support the major effects of the SA locus in human essential hypertension. However, with this strategy, we can expect that major genes responsible for hypertension will be identified in the near future.

Animals↗
PubMed1992

[Genetic analysis of some behavioral and physiologic characters in hybrids between hypertensive and normotensive rats. Analysis of the nature of the inheritance].

As a result of crosses between the SHR rats (spontaneously hypertensive strain) and WKY rats (normotensive strain), the F1 and F2 hybrids and the B1 and B2 backcrosses were obtained. Analysis of genetic control nature in these generations revealed that the WKY genes responsible for the level of arterial pressure, sensitivity to the electric current stimulation and salt (sodium and potassium) appetite characteristics were dominant. The heterosis effect was found for the body mass. Analysis of dynamics of different types of exploratory activity (in a shuttle box, in "horizontal plane", in an open field) demonstrated specificity of their genetic formulae and peculiarities of changes in their genetic control during the test.

Animals↗
PubMed1991

Automated genetic analysis.

Automation of several new, non-traditional techniques for genetic analysis has now become possible. A new system is described that performs gel electrophoretic analysis of DNA including VNTRs, gene segments, and restriction enzyme digests. The instrument detects emitted fluorescence from labeled DNA segments in real-time as they electrophore through a gel matrix past a scanning laser beam. Molecular length determination and band quantification is accomplished by comparison to an in-lane standard. Since DNA segments can be labeled and detected with any of four different dyes, the simultaneous analysis of similar length segments from different reactions within a single lane is possible. PCR products are analyzed for research in the areas of human identification and genetic disease. These examples illustrate how automation will play key role in this new era of genetic analysis.

Automation↗
PubMed1991

Genetic analysis in vibrio.

Bacteria of the genus Vibrio are remarkably diverse, and until recently the methodology for genetic analysis consisted of a patchwork of different approaches, many of which were narrowly applicable to a single species. The invention of the recombinant DNA technology and the subsequent innovations in transposon mutagenesis and in transductive and conjugative gene transfer techniques have led to the development of very powerful and general strategies for genetic analysis of species of Vibrio. The striking synergy of combining recombinant DNA, transposon, and gene transfer methods is particularly evident in the construction of transposons which generate gene fusions and of broad host range plasmids which deliver transposons and mutated genes and which mobilize chromosomes. With such tools it should be possible to perform advanced genetic analysis on the many undomesticated species of Vibrio still to be explored.

Cloning, Molecular↗
PubMed1998

Immunoperoxidase staining for cytokeratins 8 and 18 is very sensitive for detection of occult node metastasis of colorectal cancer: a comparison with genetic analysis of K-ras.

AIMS: Recent reports suggest that genetic examination of K-ras or p53 mutation is more sensitive for the detection of occult lymph node metastasis in colorectal carcinomas than conventional examination by haematoxylin and eosin (H & E) staining or immunohistochemistry for gene products. The aim of this study was, first, to define the microscopic characteristics of metastatic cancer cells in lymph nodes stained by the anti-cytokeratin antibody CAM5.2 for cytokeratins 8 and 18, and, second, to compare the detection rate of occult lymph node metastasis for immunohistochemical vs genetic methods. METHODS AND RESULTS: K-ras mutations were first examined in primary tumours of seven cases which showed distant metastasis or local recurrence within 5 years of the initial surgery in spite of the original reporting of no lymph node metastasis by routine H & E staining. K-ras mutations were positive in three cases in primary tumours and lymph nodes, and the remaining four primary tumours were negative for p53 mutation as well as K-ras mutation. Therefore, genetic analysis of occult lymph node metastasis was uninformative, but occult metastasis was detected by cytokeratin staining in two of these four cases. Comparative study of cytokeratin-positive cells was performed on each of the 43 lymph nodes from three cases with K-ras mutations. Cancer cells were detected in 28 of the 43 lymph nodes (65.1%) by cytokeratin staining and in 10 of the 43 corresponding lymph nodes (23.3%) by genetic analysis. Artefactual contamination by cancer cells was present in eight of the 28 cytokeratin positive lymph nodes, and three of the eight nodes were genetically positive. CONCLUSIONS: This study suggests that cytokeratin immunohistochemistry is more sensitive and specific for the detection of occult lymph node metastasis than genetic diagnosis by K-ras mutation in cases with genetic alterations as well as in cases without them.

Aged↗
PubMed1984

Genetic Analysis Workshop II: summary.

The second Genetic Analysis Workshop was held October 30, 1983, at the American society of Human Genetics meetings in Norfolk, Virginia. Ten groups of investigators analyzed three sets of pedigrees generated by computer simulation. A summary of the workshop is presented. In this overall description by the workshop organizers, the rationale for the choice of problems and the characteristics of the three data sets are discussed, and the ten analyses are briefly summarized and compared. Following this general summary are brief descriptions of the analyses of each group of workshop participants, in alphabetical order by senior author.

Adult↗
PubMed1989

Genetic analysis of IDDM: the GAW5 multiplex family dataset.

In a collaborative effort by 12 centers from Europe and North America, data were assembled from 94 multiplex families with insulin-dependent diabetes mellitus (IDDM) for analysis of genetic and other factors of possible etiological importance. The dataset contains information on the following genetic markers: HLA-DR beta and -DQ beta restriction fragment length polymorphisms (RFLPs), three RFLPs detected with two probes that map 5' to the insulin gene, the serologically defined HLA loci, and the immunoglobulin allotypes. Data also were included for auto-antibodies to insulin and pancreatic islet cells as possible indicators of pathogenesis and for antibodies to certain viruses that have been implicated as "triggering" agents in IDDM. Medical history of family members was obtained by means of a uniform questionnaire. Identical copies of the dataset were distributed to anyone wishing to participate in the analysis for the IDDM component of GAW5. The multiplex IDDM family dataset is now available on request for further analysis.

Adolescent↗
PubMed1989

[Genetic analysis of Streptomyces erythreus heteroclones. II. Determination of the distances between genetic loci on the map].

As a result of recombination experiments between auxotrophic mutants of S. erythreus BTCC2 haploid recombinants and heteroclones were isolated. A genetic map of S. erythreus, including 15 auxotrophic loci was constructed by genetic analysis of the segregants of the heteroclones obtained. The genetic distances between 7 key loci on the map were determined and the entire length of the map of about 105 standard recombination units was calculated.

Amino Acid Sequence↗
PubMed1983

[Genetic analysis of the structure of the predisposition to diabetes mellitus. I. Genetic epidemiological approaches to an analysis of age-dependent multifactorial diseases].

The statistical methods for genetic analysis of multifactorial diseases (MFD) with variable age-at-onset are developed. It is emphasized that the index numbers used in the genetical-epidemiological studies, such as frequency of MFD in the population (qg--incidence) and that among family members (PR), should be independent on the demographic structure of both the population and the families. The mathematical grounds for the estimating methods as well as biological meaning for such index numbers are given. The approach suggested will be used later in analysis of the structure of predisposition to diabetes mellitus.

Age Factors↗