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PubMed1990

The inclusion of an assay for inherited congenital malformations in the assessment of mutagenicity.

A number of national guidelines and regulations on the mutagenicity of chemical substances mandate the assessment of inherited genetic effects. While inherited congenital malformations represent a major component of genetically-based adverse human health effects, tests for such effects are not used by regulatory agencies to evaluate inherited genetic effects. This paper is intended to highlight some of the salient characteristics of inherited congenital malformations which promote a rationale for their use in a regulatory context.

Abnormalities, Drug-Induced↗

PubMedDate not supplied

Autosomal recessive inheritance of goiter in Dutch goats.

The inheritance of congenital goiter due to a thyroglobulin synthesis defect in a strain of Dutch goats has been studied by Mendelian and biochemical methods. Mendelian analysis of 301 matings, resulting in 591 kids, showed an autosomal recessive mode of inheritance. A restriction fragment length polymorphism (RFLP) in the thyroglobulin gene also was used to confirm the recessive mode of inheritance of the defect. In a pedigree consisting of 27 goats, spanning four generations, the genotype determined by RFLP study was in accordance with the observed phenotype and the autosomal inheritance of the defect. Although phenotypically no differences were detected between normal and heterozygous animals, the use of RFLPs allowed the diagnosis of the three genotypes.

Animals↗

PubMedDate not supplied

Cytoplasmic male sterility in sunflower: origin, inheritance, and frequency in natural populations.

Cytoplasmic male sterility (CMS) in commercial sunflower hybrids is thought to be derived from a related wild species, Helianthus petiolaris, yet CMS lines are known to carry the chloroplast DNA genotype of H. annuus. To clarify the origin of sunflower CMS, we developed a polymerase chain reaction-based strategy for detecting CMS in sunflower and surveyed more than 1,200 plants representing 55 accessions of H. annuus and 26 accessions of H. petiolaris. We also tested 160 progeny from three crosses for strict maternal inheritance of organelle DNAs to determine if the apparent discrepancy in the species donor of the mitochondrial DNA and chloroplast DNA genotypes in CMS lines might result from low-frequency maternal or biparental inheritance of either organelle. No CMS cytotypes were observed in natural populations of either H. annuus or H. petiolaris, and strict maternal inheritance of organelle DNA was observed. These data provide little insight, therefore, into the origin and population genetics of CMS in natural populations of sunflower, except that the evidence for strict maternal inheritance of organelles in sunflower makes it unlikely that the mtDNA and cpDNA genotypes in CMS lines were derived from different species. Nonetheless, the primers developed for assaying organelle DNA variation in sunflower may be useful tools for plant breeding programs, cytotype identification, and systematic and evolutionary studies in the domesticated sunflower and its relatives.

Base Sequence↗

PubMed1996

A polygenic model of inherited predisposition to cancer.

Polygenic inheritance of predisposition to cancer is demonstrated in experimental animals for different tumor types. Genetic susceptibility to hepatocarcinogenesis, lung tumorigenesis, skin and intestine carcinogenesis, and plasmacytomagenesis is determined by inheritance of multiple cancer predisposition and resistance alleles, whose chromosomal locations have been found by genetic linkage analysis. In some of these experimental models, genetic heterogeneity has also been reported. In humans, increased risk of lung cancer associated with multiple genes coding for drug metabolizing enzymes, increased risk of cancer in relatives of cancer patients, and genetic heterogeneity are compatible with polygenic inheritance of cancer predisposition. Polygenic inheritance based on the combination of multiple alleles that give predisposition and resistance to cancer would predict a very high risk of cancer in carrier individuals and a marginal increase in the relative risk of cancer in the progeny of the cancer patients. Therefore, predisposition to cancer may be genetically determined even in the absence of familial clustering of cases.

Animals↗

PubMed1999

Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans.

Mitochondrial DNA (mtDNA) is characterized by high variability, maternal inheritance, and absence of recombination. Studies of human populations have revealed ancestral associated polymorphisms whose combination defines groups of mtDNA types (haplogroups) that are currently used to reconstruct human evolution lineages. We used such inherited mtDNA markers to compare mtDNA population pools between a sample of individuals selected for successful aging and longevity (212 subjects older than 100 years and in good clinical condition) and a sample of 275 younger individuals (median age 38 years) carefully matched as to sex and geographic origin (northern and southern Italy). All nine haplogroups that are typical of Europeans were found in both samples, but male centenarians emerged in northern Italy as a particular sample: 1) mtDNA haplogroup frequency distribution was different between centenarians and younger individuals (P=0.017 by permutation tests); and 2) the frequency of the J haplogroup was notably higher in centenarians than in younger individuals (P=0.0052 by Fisher exact test). Since haplogroups are defined on the basis of inherited variants, these data show that mtDNA inherited variability could play a role in successful aging and longevity.

Adult↗

PubMed2000

Qualified testing of single-locus codominant inheritance using single tree progenies.

In forest trees, classical techniques of studying modes of inheritance are usually not feasible due to the difficulty of performing controlled crosses. The limited information on inheritance extractable from readily available data, such as the large progenies collectable from single seed trees, must be compensated by the design of appropriately parameterized models. For this purpose, a system analytic approach is used to develop a new inferential framework for testing a single-locus codominant mode of inheritance of genetic traits using the inferred genotypes within progenies of single trees of inferred heterozygous genotype. Model assumptions are random gametic fusion between the local gamete pools and absence of postzygotic selection; ovule segregation distortion is allowed. The method yields estimates of the allele frequencies in both local gamete pools. Since tests of modes of inheritance must be tests of models rather than of parameters, the utility of the classical statistical testing procedures is limited, particularly concerning the qualification of a sampling method to attain a preassigned level of precision. Consistent application of this principle makes it possible to design qualified sampling methods prior to the actual experiment as well as to specify qualification levels for tests of completed experiments.

Alleles↗

PubMed1991

Inheritance of the equine Tf F3 allele.

The inheritance of the equine Tf F3 allele was examined in 39 parent-offspring combinations. For 26 of the cases the allele inherited by the offspring from the heterozygous parent could be determined. The proportion of individuals that inherited the F3 variant compared to the alternative allele was exactly 1:1. In five cases the parental phenotype was identical to that of the offspring. For the remaining eight cases the parent was homozygous for the F3 allele and all offspring had the F3 allele. The results were consistent with Mendelian inheritance.

Alleles↗

PubMed1994

The family history and inherited thrombophilia.

The role of the family history as a tool for the diagnosis of inherited thrombophilia has not been established. Several authors have indicated that a positive family history is not a good predictor of inherited abnormalities such as antithrombin III deficiency, or deficiencies of protein C or protein S. We have tried to approach the family history in a quantitative way. To this end we used the cumulative incidence data of thrombosis in the general population and also in a population of protein C deficient families to estimate the expected number of symptomatic subjects in a family under both the hypothesis of inherited thrombophilia and the null-hypothesis. Although a number of assumptions underlying our calculations need to be verified and probably adjusted before any truly quantitative meaning can be assigned to this approach, we feel that the family history is a useful diagnostic test for inherited thrombophilia if it is used in a critical way.

Adolescent↗

PubMed1995

Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease.

An increasing number of diseases are being found to be due to elongation of specific trinucleotide repeat sequences. Inverse correlation between the age at onset and the length of the repeat has been found in most of these. The elongated CAG repeat causing Huntington's disease is highly unstable when inherited from an affected father. In this study we found an average parent-to-offspring difference of +0.08 repeat units in maternally inherited repeats, significantly less than the average difference of +2.92 repeat units with paternal transmission. Large repeat expansions, of more than 5 repeat units, were seen only in paternally inherited cases. With paternal transmission the magnitude of repeat length alterations was directly correlated to increasing paternal repeat length. Increasing variation in repeat length among siblings was correlated to increasing average repeat length in the sibship in both maternally and paternally inherited HD. Comparison of the magnitude of repeat length alterations to parental age at the time of birth of the offspring showed no correlation.

Fathers↗

PubMed1995

Inheritance of histiocytosis in Bernese mountain dogs.

One hundred and twenty-seven cases of histiocytosis in Bernese mountain dogs (BMD) were evaluated to determine if the tumour is inherited. Family data ruled out autosomal recessive, autosomal dominant and sex-linked modes of inheritance. The trait was determined to be inherited with a polygenic mode of inheritance. The salient points permitting this conclusion are: pedigrees developed from independently selected propositi link up allowing the tracing of all cases through several generations; multiple cases occur in the same litter; multiple cases have been produced by given dams and sires; there is a higher frequency of the disease among offspring of affected parents when compared to offspring of normal parents that produced histiocytosis and all offspring in the general population of BMDs; the fact that histiocytosis is common in BMDs and rare in eight other breeds and accounts for 25.4 per cent of the 500 tumours studied in this breed. The heritability of this trait was calculated to be 0.298.

Animals↗

PubMed1976

Inherited resistance to Corynebacterium kutscheri in mice.

An analysis of the factors responsible for inherited resistance to Corynebacterium kutscheri was undertaken. Various inbred mouse strains were examined; these included the Swiss Lynch and C57Bl/l mice, their F1 and F2 progeny, and the progeny of the F1 backcrossed to each parent strain. Two modes of inherited resistance are described. An examination suggested that resistance as measured by the mean lethal dose of C. kutscheri was under polygenic control and was inherited continuously. However, the efficiency with which C. kutscheri was eliminated by the mononuclear phagocyte cells of the liver over 3 days differed markedly among strains. A genetic analysis of this mononuclear phagocyte microbicidal efficiency (MPME) in Swiss Lynch and C57Bl/6 mice was undertaken. The trait, MPME, was present, but did not segregate, in the F1 progeny or in the progeny of the backcross to the resistant C57Bl/6 parent; this was clear evidence of dominance. Moreover, MPME segregated in a ratio of 1:1 in the progeny of the backcross to the sensitive Swiss Lynch parent and in a ratio of 3:1 in the F2 progeny. It was concluded that MPME was inherited discontinuously and was controlled by a single dominant autosomal gene (or closely linked group); the recessive allele was assigned the gene symbol ack. Linkage experiments showed there to be no association between the ack locus and any of the immune-response genes.

Animals↗

PubMed1995

Lack of influence of non-inherited maternal HLA-DR alleles on susceptibility to rheumatoid arthritis.

OBJECTIVE: To reproduce findings from previous reports that non-inherited maternal HLA class II antigens might contribute to rheumatoid arthritis (RA) susceptibility in the offspring. METHODS: Families were recruited from the Arthritis and Rheumatism Council's National Repository of RA families and HLA-DRB1 alleles were examined in these individuals and their first degree relatives using DNA typing methods. RESULTS: There was no evidence of an increase in either non-inherited maternal HLA-DR4 or the HLA-DRB1 shared epitope as a whole compared with the frequency expected using the non-inherited paternal antigens as controls. CONCLUSIONS: The numbers of probands who were shared epitope negative were small, but we are unable to confirm in these families the findings that non-inherited maternal HLA contributes an additional susceptibility factor to rheumatoid arthritis.

Alleles↗

PubMed1998

Influence of non-inherited maternal HLA-DR antigens on susceptibility to rheumatoid arthritis.

OBJECTIVE: It has recently been observed that non-inherited maternal DR4 antigens (NIMAs) of DR4 negative rheumatoid arthritis (RA) patients were increased compared with non-inherited paternal DR4 antigens (NIPAs). The aim of this study was to determine the prevalence of non-inherited DR4 antigens and DRB1 alleles in parents of RA patients. METHODS: HLA-DR serology and DRB1 typing was performed in 97 RA patients and their parents. NIMA and NIPA frequencies were compared, stratified according to the presence of DR4 and/or the shared epitope (SE). RESULTS: In DR4 negative patients, NIMA DR4 was increased compared with NIPA DR4 (OR 3.10, 95% CI 0.76, 12.70). When combined with results from a previous study this increase was significant (OR 3.65, 95% CI 1.29, 10.31). The NIMA effect of SE positive DR4 subtypes in this study (OR 4.73, 95% CI 0.94, 23.8) was stronger than the NIMA effect of combined SE positive DRB1 alleles (OR 2.19 95% CI 0.36, 13.22). CONCLUSIONS: The association between non-inherited maternal HLA-DR4 alleles and the susceptibility to RA was observed in two independent populations.

Adolescent↗

PubMed1980

Genetic inheritance of susceptibility to tinea imbricata.

Segregation analysis on 228 family pedigrees collected from a Papua New Guinean population provided data that strongly supported a previous report of an autosomal recessive pattern of inheritance of a susceptibility to tinea imbricata. The frequency of the susceptibility gene within the population studied was found to be 0.49 +/- 0.04, calculated on the assumption of an autosomal recessive mode of inheritance. However, in spite of the strong evidence in support of autosomal recessive inheritance, the possibility of autosomal dominant inheritance with reduced penetrance cannot be excluded.

Female↗

PubMed1991

Age at onset in Huntington's disease: effect of line of inheritance and patient's sex.

The Leiden Roster for Huntington's disease (HD) contained data on 2617 cases up to July 1988. The age at onset (AO) was known in 1084 cases and in 1020 of these both their AO and the sex of the affected parent was known. The mean AO was higher for females than for males and higher for maternal than for paternal cases. However, in the group born before 1925 only females with maternal inheritance had a higher mean AO. Data on influence of sex and line of inheritance were present for the grandparents as well as for the great grandparents. Influence of the line of inheritance from the grandparents was particularly present for the grandmother-father (MP) lineage; regarding the great grandparents a significant difference was found between the MPM and PMP lineage. The results obtained for juvenile HD cases were comparable to those previously published. In late onset cases (over 50 years) no maternal preponderance in inheritance was found.

Adult↗

PubMed1988

Mode of inheritance in familial cases of primary gonadotropic deficiency.

The mode of inheritance of primary gonadotropic deficiency was studied in 38 children and adolescents. 92% of this population was male with high frequencies of undescended testes (80%) and micropenis (31%). Anosmia was present in 61% of the patients aged more than 5 years and was a frequent genetic marker in the families. Inheritance was matrilineal in 18, X-linked dominant or autosomal dominant in 6. In 13 cases, the transmission was patrilineal and evoked autosomal dominant inheritance. An autosomal recessive transmission was likely in 7 patients. The data agree with the suggestion of multiple modes of inheritance of congenital gonadotropic deficiency, and clearly show the wide range of expressivity of the disorder.

Adolescent↗

PubMed1980

Inheritance of endothelial dystrophy of the cornea.

64 families containing a proband with corneal endothelial dystrophy were examined in order to study the hereditary nature of the disease. Data concerning the frequency of occurrence, severity of the disease, ratio of affected females to males, relationship of the disease with age, and other factors were the subject of a previous report. 7 pedigrees which reflect features of endothelial dystrophy within the 64 families are presented. These features include multiple females in a family being affected, multiple consecutively affected generations, the occurrence of offspring with disease more severe than the parent, and endothelial decompensation (edema) at a relatively young age (less than 40 years of age). The importance of examining family members whenever possible rather than relying on history alone is emphasized. A statistical analysis of the inheritance pattern was performed. Endothelial dystrophy does not seem to follow a strict autosomal dominant pattern even though superficial inspection suggests autosomal dominant inheritance (both males and females affected, successive generations affected, 38% of relatives over the age of 40 years affected). Even though we were unable to determine a specific genetic mode of inheritance in these 64 families with endothelial dystrophy, we do feel that endothelial dystrophy is at least in part an inherited disease. Future investigations might prove sex-linked dominance, genetic heterogeneity, the influence of environmental factors, or a multifactorial etiology.

Adult↗

PubMed1992

A critical appraisal of X-linked bipolar illness. Evidence for the assumed mode of inheritance is lacking.

The major assumption underlying all X-linkage studies of bipolar disorder has been that a subgroup of manic-depressive illness follows an X-linked dominant mode of inheritance. An evaluation of the segregation patterns in the pedigrees that have been analysed for X-linkage over the past 20 years does not support this assumption, because the formal genetic criteria for an X-linked dominant mode of inheritance are virtually absent. Not a single pedigree has been ascertained in which the segregation pattern is suggestive of the assumed mode of inheritance. This is mainly because segregation ratios characteristic for X-linked dominant inheritance cannot be observed among the offspring of affected males.

Bipolar Disorder↗