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Results for “Data Linkage”

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At least 55 records · Page 3Linked to original sources
PubMed1986

Further linkage data on cystic fibrosis: the Utah Study.

We reported earlier complete linkage between cystic fibrosis and an RFLP of the met proto-oncogene revealed by the probe pmetH. Another clone, pmetD, detects another polymorphism with the TaqI restriction enzyme. Further linkage studies, now involving 22 families, have confirmed the tight linkage of cystic fibrosis to the MET and D7S8 loci. Significant allelic association was found between CF and allelic series defined by the pmetH probe.

Alleles↗
PubMedDate not supplied

Data linkage.

Explore the source record for details and available documents.

Acquired Immunodeficiency Syndrome↗
PubMed1975

Linkage data on red cell acid phosphatase from family studies.

An analysis of the linkage relationships of red cell acid phosphatase (ACP1) with 36 other loci is presented. Close linkage is excluded for many loci. The hint of loose linkage with MNSs is not statistically significant, nor is it apparently consistent with the assignment of ACP1 and and MNSs to different arms of chromosome 2.

Acid Phosphatase↗
PubMedDate not supplied

Using data linkage to identify First Nations Manitobans: technical, ethical, and political issues.

BACKGROUND: The Manitoba Health Registry does not fully identify First Nations Manitobans, impacting the ability to adequately describe their health status and use of health services using this data source alone. This paper describes the processes in producing a valid database for use in a population-based report by the Manitoba Centre for Health Policy (MCHP). METHODS: The Indian Registry's Status Verification System (SVS) file is a national database containing a complete list of Registered First Nations eligible for benefits through the Indian Act. Through negotiations with the Assembly of Manitoba Chiefs' Health Information Research Committee, Indian and Northern Affairs Canada, FNIHB, Manitoba Health, and MCHP, a linkage of the SVS files and Manitoba Health's Registry was accomplished. Of the 116,177 SVS records and 5,803 deceased records, 97,635 individuals linked to the Manitoba Health Registry. RESULTS: There was a 99% match on gender, 70% match on surname, 94% match on given name, and 96% match on birth year. The total represents a 20% decrease in records from the Indian Registry. The decrease was greater for females, older people and those from southern areas. CONCLUSION: The linkage resulted in a 20% increase over Manitoba Health data alone. Our inability to link all of the records may be due to several factors. Individuals with a Manitoba Band affiliation living outside of the province could not be linked to the Manitoba Health Registry. First Nations living in Manitoba but affiliated with a non-Manitoba Band would not have been in the file obtained. Finally, births, deaths and surname change after marriage may be under-reported to the Indian Registry. This linkage enabled MCHP to provide a more accurate picture of First Nations health status and use of health care services than otherwise would have been available. Ongoing linkages with Manitoba Health data, as well as similar linkages elsewhere in Canada, are encouraged.

Adolescent↗
PubMed1991

Aland eye disease: linkage data.

A large Danish family with Aland Island eye disease (AIED) was studied by linkage analysis using 16 polymorphic DNA markers covering the whole X chromosome. Positive lod scores were found for marker loci at the proximal part of the short arm of the X chromosome, DXS255 and TIMP (Zmax = 3.93 and 3.18 at theta = 0.0), suggesting an assignment of the locus for AIED to this part of the X chromosome. Recombination was observed with the locus DXS7 as well as with other loci distal to DXS7. These results are not in agreement with the deletion presented previously by D-A. M. Pillers et al. (1990, Am. J. Med. Genet. 36: 23-28), which mapped AIED to Xp21.

DNA Probes↗
PubMed2001

Detecting population outliers and null alleles in linkage data: application to GAW12 asthma studies.

Error-checking procedures are essential to ensure accurate and powerful linkage analysis. Genotype information across families can be used to identify non-amplification of alleles (null alleles) and between-family population sub-structuring, which can result in loss of power in linkage studies if undetected. Methods to identify population outlier individuals and null alleles are applied to genotype data from two asthma genome searches (German and CSGA) available from Genetic Analysis Workshop 12. Two clear population outliers are observed in the German data set, with further evidence of population sub-structuring. In the CSGA data, a significant excess of homozygous individuals is found at D8S1106, suggestive of a null allele at this marker with an estimated frequency of 0.17 (African-American) and 0.20 (Caucasian).

Alleles↗
PubMed1975

Linkage data on MN and the Hb beta locus.

A sample of 28 informative families was studied for linkage between Hb beta and MN. Values of the neuterized recombination fraction from these and other families from the literature excluded a recombination fraction of less than .30 between these loci. Our results support different recombination values for males and females (theta equals .34 abd .50, respectively). A simple approach to estimate the sample size required as well as a study of the relationship between sibship size and sample size under conditions of loose linkage are also presented.

Brazil↗
PubMedDate not supplied

Data linkage to explore the risk of low birthweight associated with maternal proximity to hazardous waste sites from the National Priorities List.

Data from the 1988 National Maternal and Infant Health Survey files were linked with data from the 1990 Environmental Protection Agency National Priorities List of hazardous waste sites to determine whether any relationship existed between living in proximity to hazardous waste sites and low birthweight. The odds ratio for low birthweight versus normal birthweight was 1.03 (95% confidence interval [95% CI] = 0.98-1.16), and remained at 0.99 (95% CI = 0.86-1.16) when adjusted for maternal age, parity, infant sex, prenatal care, and behavioral and socioeconomic factors. Very low birthweight, infant and fetal death, prematurity, and congenital malformation were not found to be associated with living in the vicinity of a hazardous waste site during pregnancy. Merging a large population database with environmental data proved to be an innovative but not very efficient method of assessing the risks of low birthweight related to the environment.

Congenital Abnormalities↗
PubMed1998

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In six families, there was linkage of the phenotype to COL2A1. The manifestations of the affected individuals were similar to those of the original Stickler syndrome family [Stickler et al., Mayo. Clin. Proc. 40:433-455, 1965] and resembled the phenotype of the previously reported individuals or families with Stickler syndrome in which a dominant mutation in the COL2A1 gene has been identified. Linkage to COL2A1 was excluded in the two remaining families. The most striking difference between these two types of families was the absence of severe myopia and retinal detachment in the two unliked families. In the COL2A1 unlinked families, linkage of the phenotype to genes (COL11A1 and COL11A2) that encode pro alpha chains of type XI collagen, a minor cartilage-specific collagen, was also excluded. Since Stickler syndrome can be produced by mutations in COL2A1, COL11A1, and COL11A2, our data suggest that there is at least a fourth locus for Stickler syndrome.

Collagen↗
PubMed1982

X-linkage and genetic heterogeneity in bipolar-related major affective illness: reanalysis of linkage data.

It has been suggested that an X-linked dominant allele operates in the genetic transmission of bipolar (manic-depressive) illness. Linkage studies with X-chromosome markers have remained inconclusive, showing both positive and negative results. Some of the ambiguity may be attributed to imprecise analytic methods and genetic heterogeneity. In this report, recently published pedigree series are reanalysed for linkage using a systematic method of pedigree analysis (Liped 3) with an accurate age-of-onset correction. Linkage heterogeneity is assessed through a two-recombination fraction heterogeneity test suggested by Smith (1963). The results are as follows: (1) Close linkage of bipolar illness to colourblindness (deutan and protan) and glucose-6-phosphate dehydrogenase deficiency appears to be present in some pedigrees, with estimated recombination fractions of theta = 0.05 and 0.00, respectively; (2) Linkage with the Xg blood group cannot be supported. These results are consistent with known linkages on the X chromosome.

Age Factors↗
PubMed1978

Isocitrate dehydrogenase in Aedes aegypti: formal genetics, preliminary linkage data and study of natural populations.

Two loci for isocitrate dehydrogenase (Idh-1 ad Idh-2) are described in Ae. aegypti, both polymorphic with two codominant alleles. Crosses made to test linkage relationships of Idh-1 indicate that this locus is independent from sex (chromosome 1) and from Sod-1 and Hk-1 loci (chromosome 3), while it is linked to Pgm on the second chromosome. Average percent of recombination is 11.37, but significant differences have been found among strains. Data on genetic variability of Idh-1 and Idh-2 in three domestic african field populations are presented.

Aedes↗