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At least 487 records · Page 27Linked to original sources
PubMed1977

Linkage between an X-chromosome marker (deutan color blindness) and bipolar affective illness. Occurrence in the family of a lithium carbonate-responsive schizo-affective proband.

Studies with X-chromosome markers in mental illness have been limited to the diagnostic concept of primary affective disorders. The present study is the first to our knowledge to demonstrate statistically measurable linkage between color blindness and manic-depressive illness in a family identified by a schizo-affective proband. Linkage data and lithium carbonate response in the proband suggest that the schizophreniform-affective spectrum in members of the pedigree may reflect a genetically distinct disorder. The use of a genetic marker as a heuristic diagnostic criterion in a subgroup of heredofamilial psychoses with unclear diagnostic boundaries is proposed.

Adult↗
PubMed1992

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.

Salla disease is a lysosomal storage disorder due to impaired transport of free sialic acid across the lysosomal membrane. The clinical presentation of this autosomal recessive trait is severe psychomotor retardation from early infancy on. In order to determine the gene locus for the disease we have initiated a genetic linkage study using polymorphic gene markers in representative family material comprising about 60% of all families known to be affected with Salla disease. Here we present an exclusion map based on combined linkage data from 64 informative loci on 19 autosomes. Theoretically, at least 55% of the genome has been excluded as a locus for the disease gene, while some chromosome areas, particularly the long arm of chromosome 2, are highlighted as possible sites for the gene locus.

Chromosome Mapping↗
PubMed1998

Social class differences in health until the age of seven years among the Finnish 1987 birth cohort.

Studies on social class differences in childhood health are controversial partly because of different data collection methods, limited sample sizes and the use of limited numbers of health indicators. The increasing collection of health register data enables the use of such data in social class studies. Our purpose was to investigate social class differences in mortality and morbidity among all children born in Finland in 1987 (N=59,865 liveborns) until the age of seven by using several national health registers, and to study whether perinatal health explains these differences. The follow-up was based on data linkage with six national health registers, with 18 regional registers of mentally disabled children, covering the whole country, and with 38 educational registers of the largest county. Morbidity was measured in terms of a cumulative disease index, the cumulative incidence of asthma, diabetes, epilepsy and intellectual disability, hospitalisations, disease-related welfare benefits and special education. Social class, divided in four groups (I-III, Others) was defined by using the mother's occupation at the time the child was seven years old. Our study showed that register-based data collection is a feasible method for studying social class differences in health. In the unadjusted analysis, social class differences were found for all indicators except mortality after the age of one year and for the cumulative incidence of asthma and diabetes. After adjusting for confounders, the children in the lowest social class had the highest risk for poor health outcome both in the perinatal period and in childhood, and had the most intellectual disabilities, the highest mean of hospitalisation days, and received the most special education. The differences were not explained by perinatal health. The health of the children in the lowest social class was poorer, especially regarding mental indicators.

Chi-Square Distribution↗
PubMed1986

Multipoint linkage analysis of spinocerebellar ataxia and markers on chromosome 6.

Heterogeneity among the spinocerebellar ataxias (SCA) has been shown on clinical, biochemical, and genetic criteria. Among the autosomal dominant SCAs, several kindreds have shown loose linkage to the HLA loci on chromosome 6, while linkage in other kindreds has been rejected. The advent of multipoint linkage analysis allows the use of several marker loci simultaneously, thus increasing the amount of usable information. We have reanalyzed linkage data from a large kindred with SCA and provide evidence for a telomeric location of the SCA gene in this family. Knowledge of the relative gene location will ease the identification of the SCA gene by reducing the size of the chromosomal regions that must be examined.

Chromosome Mapping↗
PubMed1995

Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster.

Palmoplantar keratoderma is a group of hereditary disorders of keratinization involving hyperkeratosis of palms and soles. Two different forms of palmoplantar keratoderma have recently been shown to be caused by mutations in the body site-specific keratin 9 gene and in the keratin 1 gene, respectively. Now we have analyzed a large German family with autosomal dominantly inherited palmoplantar keratoderma in association with carcinoma of the esophagus. Linkage to both the type I keratin gene cluster on chromosome 17q distal to the type I keratin genes. Two-point linkage data at D17S801 gave a lod score Zmax - 5.1 at theta = 0.00. Therefore, palmoplantar keratoderma is shown to be heterogeneous clinically as well as genetically and may be caused by mutations in keratins as well as in nonkeratins.

Chromosome Mapping↗
PubMedDate not supplied

Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene.

Lesch-Nyhan syndrome (LNS) is an X-linked genetic disorder resulting in hyperuricemia, choreoathetosis, mental retardation, and self-injurious behavior. It is caused by loss of activity of the ubiquitous enzyme hypoxanthine-guanine-phosphoribosyltransferase (HPRT). The biochemical analysis of residual HPRT activity in patients' red blood cells is the first step in LNS diagnosis, and it precedes molecular study to discover the specific mutation. Unfortunately, biochemical diagnosis of healthy carriers is difficult because HPRT enzymatic activity in blood cells is similar in LNS carriers and in healthy people; genetic tests can help reveal mutations at the genomic or cDNA level, whereas gross deletions involving the first or last exons of HPRT gene are not detectable. Until now, a test based on 6-thioguanine-resistant phenotype of HPRT mutant cells from LNS patients is the only method accepted for the diagnosis of any kind of mutation in carriers. In this work, we introduce a new approach to identify carriers of large deletions in HPRT gene using real-time PCR. Results were validated in a blinded manner with a linkage study and with results obtained in Italian families previously analyzed with selective medium test. Real-time PCR analysis clearly confirmed the results obtained by selective medium; linkage data strengthened real time results, allowing us to follow the allele with the mutated HPRT through the family pedigree. We hope that the real-time PCR approach will provide a useful and reliable method to diagnose LNS carriers of large deletions in HPRT gene.

Female↗
PubMed2005

Mother's consent to linkage of survey data with her child's birth records in a multi-ethnic national cohort study.

BACKGROUND: The increased use of computer-based records has facilitated linkage of routine data with that obtained for research. When children are involved, parental consent for linkage is usually required. The Millennium Cohort Study, of 18,819 UK babies born in 2000-02, over-sampled families from disadvantaged and ethnic wards, providing the opportunity to investigate factors associated with mother's consent to access her child's birth records. METHODS: Factors considered included ward type and mother's socioeconomic status, ethnicity, education, age, and language. Logistic regression was used to investigate the relationship of these factors with consent. RESULTS: Consent for linkage to birth register and/or hospital maternity data was obtained from 92% of the cohort mothers. The proportions consenting differed according to the mother's country of residence, age, and education, with consent being less likely among minority ethnic group mothers, lone parents, and those with higher degrees or no qualifications. Where interviews had been translated, consent was significantly less likely if the interpreter was a male. CONCLUSION: A large proportion of mothers who were interviewed gave permission for linkage. However, there were some groups who were less likely to do so, particularly those from minority ethnic groups. These sources of non-consent bias should be taken into account when analysing linked data from socially and ethnically mixed populations. Efforts should be made to understand the reasons for non-consent, which in turn will help determine the best ways to encourage more mothers to consent in future.

Adolescent↗
PubMed1992

Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP.

Genetic studies have revealed that 25 to 30% of autosomal dominant retinitis pigmentosa (adRP) families have mutations in the rhodopsin gene, while the remainder do not. More recently linkage data and mutation detection have demonstrated two further loci implicated in adRP, at an as yet unidentified gene on chromosome 8p and at the human gene homologue of the mouse Rds (Retinal Degeneration Slow) gene on chromosome 6p. We have previously reported exclusion of adRP from the rhodopsin locus on 3q in two large adRP families. We now report exclusion data for both families, on chromosomes 6 and 8, demonstrating that the adRP phenotype results from mutations in at least four locations.

Chromosome Mapping↗
PubMed1999

A consensus map for loblolly pine (Pinus taeda L.). I. Construction and integration of individual linkage maps from two outbred three-generation pedigrees.

A consensus map for loblolly pine (Pinus taeda L.) was constructed from the integration of linkage data from two unrelated three-generation outbred pedigrees. The progeny segregation data from restriction fragment length polymorphism, random amplified polymorphic DNA, and isozyme genetic markers from each pedigree were recoded to reflect the two independent populations of parental meioses, and genetic maps were constructed to represent each parent. The rate of meiotic recombination was significantly greater for males than females, as was the average estimate of genome length for males (1983.7 cM [Kosambi mapping function (K)]) and females [1339.5 cM(K)]. The integration of individual maps allows for the synthesis of genetic information from independent sources onto a single consensus map and facilitates the consolidation of linkage groups to represent the chromosomes n = 12 of loblolly pine. The resulting consensus map consists of 357 unique molecular markers and covers approximately 1300 cM(K).

Chromosome Mapping↗
PubMed1997

Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family.

Idiopathic torsion dystonia is characterized by involuntary twisting movements and postures. One molecularly defined form with generalized dystonia has been shown to be autosomal dominantly inherited with reduced penetrance in chromosome 9q34.1, especially in Ashkenazi Jewish families, while other generalized families from Europe and families with other subtypes of dystonia have been excluded from linkage to this locus. Genealogical studies suggest that the much more frequent focal dystonia follows an autosomal dominant inheritance with reduced penetrance as well. For our study, 488 patients with focal dystonia, without a tendency for generalization, were interviewed for their family history. Evidence for hereditary disposition was found in 88 individuals. In a second step, all available family members of 17 of the 488 index patients (chosen for cooperation) were clinically examined. Objective diagnosis of affected relative was established in 13 families, whereas only 4 of the 17 index patients had previously admitted a positive family history. Furthermore, a large three-generation family with focal dystonia linked to chromosome 18p (linkage data described elsewhere) was identified. The familial pattern of all reported families is compatible with autosomal dominant inheritance with reduced penetrance. Assessment only on patients' report leads to underestimation of the frequency of familial idiopathic focal dystonia.

Adult↗
PubMed1991

Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28.

The oto-palato-digital syndrome (OPD) is a rare X-linked disease with diagnostic skeletal features, conduction deafness, cleft palate and mild mental retardation. Differences in clinical presentation between families have led investigators to classify OPD into two subtypes: type I and type II. A linkage study performed in one family segregating for OPD I has recently suggested linkage to three marker loci: DXS15, DXS52 at Xq28, and DXS86 at Xq26. We have investigated an additional OPD I family for linkage by using distal chromosome Xq DNA probes. The linkage data and the analysis of recombination events that have occurred in this family excluded, definitively, the Xq26 region for OPD I, and provide further support for mapping the mutant gene close to the cluster of tightly linked markers DXS15, DXS52 and DXS305 at Xq28.

Abnormalities, Multiple↗
PubMed1979

Linkage studies on the human Pi, Gm, GLO, and HLA genes.

Linkage data of the four gene markers Pi, Gm, GLO, and HLA exclude Gm and Pi gene assignment to the short arm of chromosome 6. The findings, however, do not disprove the following gene order: HLA--GLO--centromere--Gm--Pi.

Adult↗
PubMed2005

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.

Febrile seizures (FS) represent the most common seizure disorder in childhood and contribution of a genetic predisposition has been clearly proven. In some families FS is associated with a wide variety of afebrile seizures. Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with a spectrum of phenotypes including FS, atypical febrile seizures (FS+) and afebrile generalized and partial seizures. Mutations in the genes SCN1B, SCN1A and GABRG2 were identified in GEFS+ families. GEFS+ is genetically heterogeneous and mutations in these three genes were detected in only a minority of the families. We performed a 10 cM density genome-wide scan in a multigenerational family with febrile seizures and epilepsy and obtained a maximal multipoint LOD score of 3.12 with markers on chromosome 5q14.3-q23.1. Fine mapping and segregation analysis defined a genetic interval of approximately 33 cM between D5S2103 and D5S1975. This candidate region overlapped with a previously reported locus for febrile seizures (FEB4) in the Japanese population, in which MASS1 was proposed as disease gene. Mutation analysis of the exons and exon-intron boundaries of MASS1 in our family did not reveal a disease causing mutation. Our linkage data confirm for the first time that a locus on chromosome 5q14-q23 plays a role in idiopathic epilepsies. However, our mutation data is negative and do not support a role for MASS1 suggesting that another gene within or near the FEB4 locus might exist.

Adolescent↗
PubMed2004

Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13.

OBJECTIVE: To test a high density of microsatellite markers from within a primary osteoarthritis (OA) locus on chromosome 6 for association with OA as a means of narrowing and focusing our search for the susceptibility gene. METHODS: One hundred forty-six families, each with 2 or more women concordant for primary OA (ascertained by total hip replacement), were genotyped for 36 microsatellite markers from within a narrow interval at 6p12.3-q13 which we had previously shown to be linked to OA. Each marker was tested for linkage and for association, the latter by means of the transmission disequilibrium test and by a case-control analysis. RESULTS: The highest 2-point logarithm of odds (LOD) score was 4.8, with 11 markers having LOD scores > or =2.0. Several markers demonstrated evidence of association, in particular, a cluster of markers positioned within or near the functional candidate gene BMP5. CONCLUSION: Our linkage data reinforce the evidence of a major susceptibility locus on chromosome 6. We had previously failed to detect an association with BMP5 using gene-based single-nucleotide polymorphisms. The association data reported here prompt us to speculate that the chromosome 6 susceptibility may be coded for by cis-acting polymorphism in the regulatory elements of this gene, rather than by variation in its protein coding sequence.

Arthroplasty, Replacement, Hip↗
PubMed1985

Different gene defects in the salt-wasting (SW), simple virilizing (SV), and nonclassical (NC) types of congenital adrenal hyperplasia (CAH).

HLA (human leucocyte antigens) alleles and plasma 17-hydroxyprogesterone levels after ACTH stimulation were studied in 134 German families of patients with salt-wasting (SW), simple virilizing (SV), and nonclassical (NC) late-onset forms of CAH. HLA typing revealed a genetic difference between the two classical disease forms. SW-CAH was strongly associated with Bw47 and SV-CAH was closely linked to B5. The nearly complete connection of NC-CAH with B14 was confirmed. Bw47 and B14 were mostly components of the normally rare haplotypes A3, Bw47, DR7 and Aw33, B14, DR1, respectively. They did not occur in the families' disease-unaffected haplotypes. The HLA linkage data were consistent with those obtained from the ACTH stimulation test which showed a higher 17-hydroxyprogesterone increase in the group of genetically defined heterozygous relatives of SW patients than in the groups of heterozygous members of SV and NC families.

17-alpha-Hydroxyprogesterone↗
PubMed2001

Commentary on "Genetic linkage and transmission disequilibrium of marker haplotypes at chromosome 1q41 in human systemic lupus erythematosus", by RR Graham et al.

Genome-wide linkage analysis studies in families with systemic lupus erythematosus (SLE) have revealed consistent evidence of linkage to several regions of the genome. In a previous issue of this journal, Graham and colleagues described their approach to following up the linkage data for one of these regions, 1q41-42. Using methods based on the transmission disequilibrium test, the region likely to harbour a SLE disease gene was refined to 2.3 Mb. This commentary discusses their approach and identifies lessons that may be applicable to the investigation of other complex diseases.

Animals↗
PubMedDate not supplied

Teenage childbearing and long-term socioeconomic consequences: a case study in Sweden.

CONTEXT: Whether long-term socioeconomic problems experienced by many teenage mothers are a reflection of preexisting disadvantage or are consequences of teenage motherhood per se remains unclear. METHODS: National data on all women born in Sweden from 1941 to 1970 who were younger than age 30 when they first gave birth (N=888,044) were analyzed. The outcome measures, assessed during adulthood, were employment status, socioeconomic status, educational attainment, single motherhood, family size, receipt of disability pension and dependence on welfare. Multiple logistic regression techniques were used to adjust for maternal birth cohort and for socioeconomic background of the woman's family. RESULTS: Compared with Swedish women who first gave birth at ages 20-24, those who were teenage mothers had significantly increased odds of each unfavorable socioeconomic outcome in later life, even after the data were adjusted for family socioeconomic situation and maternal birth cohort. For example, teenage motherhood was positively associated with low educational attainment (odds ratios of 1.7-1.9, depending on the specific age during adolescence when the woman gave birth), with single living arrangements (odds ratios, 1.5-2.3), with high parity (odds ratios, 2.6-6.0), with collecting a disability pension (odds ratios, 1.6-1.9) and with welfare dependency (odds ratios, 1.9-2.6). These trends were usually linear, with the highest odds ratios corresponding to women who had had their first child at the youngest ages. CONCLUSIONS: A longitudinal analysis of record-linkage data from Sweden supports the view that childbearing during adolescence poses a risk for socioeconomic disadvantage in later life--even for adolescents from relatively comfortable backgrounds and for those who studied beyond elementary school.

Adolescent↗
PubMed1992

A molecular marker-based linkage map of Phaseolus vulgaris L.

A seed and flower color marker (P), nine seed protein, nine isozyme and 224 restriction fragment length polymorphism marker loci were used to construct a linkage map of the common bean, Phaseolus vulgaris L. (n = 11). The mapping population consisted of a backcross progeny between the Mesoamerican breeding line 'XR-235-1-1' and the Andean cultivar 'Calima'; the former was used as the recurrent parent. A bean PstI genomic library enriched for single copy sequences (95%) was the source of DNA probes. Sixty percent of the probes tested detected polymorphisms between the parental genotypes with at least one of the four restriction enzymes used here (DraI, EcoRI, EcoRV and HindIII). The computer software Mapmaker was used to determine the linkage relationships and linear order of segregating markers. These markers assorted into 11 linkage groups covering 960 cM of the bean genome. Partial linkage data were used to estimate the total length of the genome at 1200 cM. This estimate and that for the physical size of the genome yield an average ratio of 530 kb/cM. The relatively small size of the genome makes this crop species a good candidate for the isolation of genes via chromosome walking techniques.

Blotting, Southern↗