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PubMed1991

Inherited ring chromosomes: an analysis of published cases.

A review of case reports on patients with ring chromosome revealed 30 individuals (plus two fetuses) who inherited the ring from a total of 23 carrier parents (21 mothers and 2 fathers). The proportion of cases with inherited rings, among all patients with a ring, was calculated to be 5.6% as an upper limit. However, because of a propable difference in survival and fertility between individuals with transmitted and do novo rings, and because of the preferential publication of cases involving inherited rings (and thus a publication bias), the proportion of inherited rings should in reality be no more than 1%. Out of 30 transmitted rings, there were 9 where parent and child were both mosaics, suggesting an inherited instability of the chromosome involved leading to de novo re-formation of the ring in the second generation. The relatively mild clinical manifestations of ring chromosomes, in general, was found to be even more striking in familial cases. In half of the offspring the phenotype was very similar to that of the parent. However, in about a third of cases the offspring were more severely (mentally) affected. This fact should be considered in genetic counseling of clinically normal women who carry a ring chromosome.

Female↗
PubMed1985

Will a three-allele model of inheritance explain the HLA data for type 1 (insulin-dependent) diabetes?

The HLA data from nine published studies on Type 1 (insulin-dependent) diabetes were examined to see whether a three-allele model for the inheritance of Type 1 diabetes at the HLA-associated locus could be rejected. None of the data rejected the three-allele model. The data were also examined to see whether they would reject a recessive model. Out of the nine data sets, five rejected a recessive and four did not. The p value for all studies together rejected a recessive. Two of the data sets allowed us to test the hypothesis that multiplex and simplex families would exhibit different modes of inheritance. Multiplex data from both data sets rejected recessive inheritance while the multiplex data from only one data set also rejected three-allele inheritance. The results of assuming a recessive model and analyzing the data from simplex families led to different results from the two data sets. In addition, data from a non-European population were examined and found to reject both recessive and three-allele inheritance for Type 1 diabetes at the HLA-associated locus.

Alleles↗
PubMed1980

Dominant inheritance of cleft of the soft palate.

A family is described with apparent dominantly inherited complete cleft of the soft palate. The complexity of the genetics of oral clefts is emphasized. The inheritance of oral clefts is complex. Different modes of inheritance have been reported for clefts both simple and in syndromes (Gorlin et al., 1971), but the majority of cases of nonsyndromal clefts appears to have a low, yet significant, genetic component (Fraser et al., 1974). This report describes a family with cleft of the soft palate which appears to follow a dominant pattern of inheritance. To our knowledge this is the first reported instance of dominantly inherited cleft palate.

Child↗
PubMed1995

Paternal inheritance of plastids in interspecific hybrids of the genus Actinidia revealed by PCR-amplification of chloroplast DNA fragments.

RFLPs (restriction fragment length polymorphisms) of PCR (polymerase chain reaction) -amplified fragments were used to trace the pattern of plastid DNA inheritance in the genus Actinidia. A total of 51 progeny originating from interspecific crosses between three A. arguta cultivars and A. deliciosa, the kiwifruit, and 12 progeny originating from the cross between A. kolomikta and A. chinensis were analysed together with their parents. No reciprocal crosses could be tested since they all failed to set viable seeds. Attempts to rescue immature embryos failed in all cases as well. The A. argutaXA. deliciosa crosses were checked for the RFLP patterns of a sequence encoding part of the Rubisco large subunit (rbcL), using either AluI or MseI, and for a sequence encoding part of the photosystem II D1 protein (psbA), using HinfI. The A. kolomiktaXA. chinensis cross was checked for the RFLP patterns of sequences encoding the spacers between trnT and the 5'-trnL exon (a-b spacer DNA) and the trnL 3' exon and trnF (e-f spacer DNA), respectively. The first spacer revealed a natural polymorphism between the two parent species due to a large deletion occurring in A. kolomikta detectable without further restriction enzyme treatment. The e-f spacer DNA was digested with HinfI. The comparison of the RFLP patterns in the parents and their progeny showed a strictly paternal inheritance of chloroplast DNA in Actinidia, with no exception found in any of the crosses examined. As the reciprocal crosses were not available, we do not know whether paternal inheritance of plastids is restricted to the crosses we analysed or if this is the general rule for plastid inheritance in the genus Actinidia. Actinidia is dioecious and is the first purely outbreeding species for which a paternal plastid inheritance has so far been documented.

Base Sequence↗
PubMed1994

Inheritance of MHC class II genes in IDDM studied in population-based affected and control families.

The transmission of HLA-DR and DQ was compared between 46 families with at least one child affected by insulin dependent diabetes mellitis (IDDM) and 43 healthy control families. In the patient families, there was an increased transmission of DR4 (p < 0.025) and DQB1*0302 (p < 0.01) from both parents to the index patient. There was an increased transmission of DQB1*0302 (p < 0.03) from the mothers only. The non-inherited maternal haplotypes showed a significantly decreased frequency (p < 0.01) of positively associated haplotypes (DR4-DQA1* 0301-DQB1*0302, DR3-DQA1*0501-DQB1*0201) compared to all parental haplotypes in the control families. In the control families neither transmission rates nor frequencies of non-inherited haplotypes differed from those expected in the control families. In conclusion, the observed reduction of IDDM-positively associated haplotypes in patient non-inherited maternal haplotypes, but not in non-inherited paternal haplotypes, suggests that tolerance during fetal life to maternal non-inherited HLA molecules may be important to diabetes development.

Adolescent↗
PubMed1977

[Importance of inheritance in cardiomyopathies (author's transl)].

Inheritance plays an important role in the cardiomyopathies (i.e. dysfunction of the cardiac muscle of unknown origin). This especially has become obvious for the entity asymmetric septal hypertrophy of autosomal dominant inheritance (ASH), a cardiomyopaty with and without obstruction. But this is not the only type of cardiomyopathy of dominant transmittance as was shown by the demonstration of a kindred, in which echocardiographically no hypertrophy of the septum could be found. For it was not possible to find a uniformity for all the affected members of the kindred, for example a congestive course of the disease. Therefore it is suggested to name the disease without any prejudice "cardiomyopathy without asymmetric septal hypertrophy of dominant inheritance" to distinguish it from the "cardiomyopathy with asymetric septal hypertrophy of dominant inheritance". There also may occur a cardiomyopathy of autosomal recessive inheritance. This form could represent a large part of the "sporadic" cardiomyopathies and should challenge to search intensively for enzyme defects as a cause of the disease.

Cardiomyopathies↗
PubMed2006

Inheritance of organelle DNA markers in a pea cross associated with nuclear-cytoplasmic incompatibility.

An unusual biparental mode of plastid inheritance was found in pea, in a cross associated with nuclear-cytoplasmic incompatibility manifested as deficiency of chlorophyll pigmentation. Plastid DNA marker trnK and mitochondrial DNA marker cox1 were analyzed in F1 progeny that received cytoplasm from an accession of a wild subspecies Pisum sativum ssp. elatius. Plants with sectors of green tissue on leaves and seed cotyledons with green patches on an otherwise chlorotic background were found to carry paternally inherited plastid DNA, suggesting that photosynthetic function was affected by nuclear-cytoplasmic conflict and required proliferation of paternally inherited plastids for normal performance. The paternally inherited plastid DNA marker was also observed in the roots. The presence of the paternal marker in cotyledons, roots and leaves was independent of each other. Inheritance of the mitochondrial DNA marker cox1 appeared to be of the maternal type.

Cell Nucleus↗
PubMed2004

Polar overdominant inheritance of a DLK1 polymorphism is associated with growth and fatness in pigs.

The polar overdominance model of inheritance was proposed to explain the non-Mendelian expression of callipyge muscular hypertrophy in sheep. The callipyge locus (CLPG) maps to the distal portion of ovine Chromosome 18 within the DLK1- GTL2 region and corresponds to human Chromosome 14q32, where uniparental disomy (UPD) of the region is associated with multiple congenital anomalies, including growth retardation and obesity. We investigated the porcine DLK1- GTL2 region in a cross of two pig breeds to determine if the callipyge polar overdominance is present in another species. Analyses of the parental origin of DLK1 polymorphism in the F2 offspring found that paternal inheritance of DLK1 allele 2 and maternal inheritance of the allele 1 was significantly associated with decreased fat deposition and increased lean muscle mass, while the opposite parental inheritance of these alleles was associated with slower prenatal and postnatal growth. These results suggest that the polar overdominance mode of inheritance is present in the pig chromosomal region that is homologous to the CLPG locus in sheep. Further study in pigs can provide important insights into understanding the molecular regulation of imprinted genes that are associated with human UPD14 and sheep callipyge phenotypes.

Alleles↗
PubMed2004

A high proportion of genes involved in position effect variegation also affect chromosome inheritance.

Suppressors and enhancers of position effect variegation (PEV) have been linked to the establishment and maintenance of heterochromatin. The presence of centromeres and other inheritance elements in heterochromatic regions suggests that suppressors and enhancers of PEV, Su(var) s and E(var)s [collectively termed Mod(var)s], may be required for chromosome inheritance. In order to test this hypothesis, we screened 59 ethyl methanesulfonate-generated Drosophila Mod(var)s for dominant effects on the partially compromised inheritance of a minichromosome ( J21A) missing a portion of the genetically defined centromere. Nearly half of these Mod(var)s significantly increased or decreased the transmission of J21A. Analyses of homozygous mutant larval neuroblasts suggest that these mutations affect cell cycle progression and native chromosome morphology. Five out of six complementation groups tested displayed mitotic abnormalities, including phenotypes such as telomere fusions, overcondensed chromosomes, and low mitotic index. We conclude that Mod(var)s as a group are highly enriched for genes that encode essential inheritance functions. We propose that a primary function of Mod(var)s is to promote chromosome inheritance, and that the gene silencing phenotype associated with PEV may be a secondary consequence of the heterochromatic structures required to carry out these functions.

Animals↗
PubMed1998

Inherited risk factors for thrombophilia in children with nephrotic syndrome.

UNLABELLED: A hereditary tendency to venous thrombosis rarely results in a spontaneous thrombotic episode before puberty. The acquired hypercoagulability associated with nephrotic syndrome (NS) could, however, coincide with underlying inherited thrombophilia, thereby resulting in a thrombotic event. In order to determine the contribution of inherited prothrombotic conditions to thrombosis in children with NS, we analysed DNA from a cohort of patients with NS for the common genetic risk factors of vascular disease. We evaluated 53 children with NS and 41 paediatric controls for prevalence of the factor V mutation Arg506-->Gln (factor V Leiden), the prothrombin variant (20210G-->A), and homozygosity for Ala677-->Val in the methylenetetrahydrofolate reductase gene (MTHFR). Eight thrombo-embolic events were identified in 6 out of 53 (11%) children. Three thrombotic events occurred during NS activity and were associated with systemic infections in two and an arterial puncture in one. An inherited risk factor was identified in seven children, all without thrombosis (two heterozygous for the prothrombin variant and five homozygous for the MTHFR-T). None of the studied inherited risk factors were identified among those with thrombosis. CONCLUSIONS: These data suggest that inherited thrombophilia is not a strong risk factor for the development of non recurrent thrombosis in children with NS.

Adolescent↗
PubMed2007

Segregation analysis of 1,546 prostate cancer families in Finland shows recessive inheritance.

Prostate cancer (PCa) is the most frequently diagnosed cancer in men worldwide and is likely to be caused by a number of genes with different modes of inheritance, population frequencies and penetrance. The objective of this study was to assess the familial aggregation of PCa in a sample of 1,546 nuclear families ascertained through an affected father and diagnosed during 1988-1993, from the unique, founder population-based resource of the Finnish Cancer Registry. Segregation analysis was performed for two cohorts of 557 early-onset and 989 late-onset families evaluating residual paternal effects and assuming that age at diagnosis followed a logistic distribution after log-transformation. The results did not support an autosomal dominant inheritance as has been reported in many of the hospital-based prostatectomy series. Instead, it confirmed the existence of hereditary PCa in the Finnish population under a complex model that included a major susceptibility locus with Mendelian recessive inheritance and a significant paternal regressive coefficient that is indicative of a polygenic/multifactorial component. The strengths of our study are the homogenous Finnish population, large epidemiological population-based data, histologically confirmed cancer diagnosis done before the PSA-era in Finland and registry based approach. Our results support the evidence that the inheritance of PCa is controlled by major genes and are in line with the previous linkage studies. Moreover, this is the first time a recessive inheritance is suggested to fit PCa in all data even when divided to early and late-onset cohorts.

Age Factors↗
PubMed1988

Inherited factors in thrombosis.

Patients with inherited defects or abnormalities that impair the naturally-occurring anticoagulant and fibrinolytic systems are at risk of developing venous and, more rarely, arterial thromboembolism. The prevalence of inherited thrombophilia in the general population is higher than that of inherited bleeding disorders (ca. 1 in 7500 vs 1 in 20,000). Low levels or dysfunctional forms of antithrombin III, protein C and protein S and abnormal fibrinogens are the most frequent and well-established inherited causes for thrombosis. Less frequent and/or less established causes are low heparin cofactor II and plasminogen and high levels of plasminogen activator inhibitor and histidine-rich glycoprotein. The pathophysiology, genetic and clinical aspects and laboratory diagnosis of inherited thrombotic disorders are reviewed and an approach to prophylaxis and therapy is outlined.

Humans↗
PubMed2006

Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy.

BACKGROUND: Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy (IGE) with complex inheritance. Previous studies have suggested maternal inheritance and female excess in IGEs but have not been specific for JME. We investigated evidence for maternal inheritance, female excess and patterns of familial seizure risk in a well-characterized sample of JME families. METHODS: We ascertained 89 families through a JME proband and 50 families through a non-JME IGE proband. JME families were divided into those with and without evidence of linkage to the EJM1 susceptibility locus on chromosome 6. We analyzed transmission in 43 multigenerational families, calculated the adjusted sex ratio for JME, and looked for evidence of seizure specific risk in 806 family members. RESULTS: We found evidence for preferential maternal transmission in both EJM1-linked and unlinked families (2.7:1), evidence even more marked when potential selection factors were excluded. The adjusted female: male risk ratio was very high in JME (RR=12.5; 95% CI: 1.9-83.7). Absence seizures in JME probands increased the overall risk of seizures in first degree relatives (15.8% vs. 7.0%, P=0.011), as well as first-degree relatives' specific risk of absence seizures (6% vs. 1.6%, P=0.01), but not myoclonic seizures. CONCLUSIONS: We have confirmed the finding of maternal inheritance in JME, which is not restricted to JME families linked to the EJM1 locus. The striking female excess in JME may relate to anatomical and/or endocrine sexual dimorphism in the brain. Evidence for independent inheritance of absence and myoclonic seizures in JME families reinforces a model in which combinations of loci confer susceptibility to the component seizure types of IGE.

Chromosomes, Human, Pair 6↗
PubMed2005

Mitochondrial movement and inheritance in budding yeast.

Mitochondria are essential organelles that perform fundamental cellular functions including aerobic energy mobilization, fatty acid oxidation, amino acid metabolism, heme biosynthesis and apoptosis. Mitochondria cannot be synthesized de novo. Therefore, the inheritance of this organelle is an essential part of the cell cycle; that is, daughter cells that do not inherit mitochondria will not survive. The budding yeast, Saccharomyces cerevisiae, is a facultative aerobe that can tolerate mitochondrial mutations that would be lethal in other organisms. Therefore, yeast has been used extensively to study inheritance and segregation of mitochondria. As a result, much of what we know regarding mitochondrial inheritance has been uncovered using yeast as a model system. Here, we describe the latest developments in mitochondrial motility and inheritance.

Actin-Related Protein 2-3 Complex↗
PubMed2003

Are some septal deformities inherited? Type 6 revisited.

OBJECTIVE: There has been little research into inherited septal deformities. While, Pejić carried out a study some 50 years ago, and Grymer more recently suggested that some posterior septal deformities could be inherited, both studies lack a precise definition of the types of septal deformities which were investigated. The aim of this paper is to investigate the hypothetic influence of heredity on the onset of particular types of septal deformities. The authors investigated a very particular and well defined type of septal deformity: type 6 after Mladina's classification. METHODS: The authors studied a group of 22 children among 779 children aged 7-14, selected at random, suffering from type 6 septal deformity and their 44 parents. They were examined by means of anterior rhinoscopy by two the same ENT specialists in rhinology. The control group consisted of 24 children with a straight nasal septum of the same age and sex distribution and their 48 parents. The results were compared using Fisher's exact probability test. RESULTS: In the studied group type 6 septal deformity was found in 21 out of 22 both fathers and mothers of these children. Type 6 was not found in any of 48 parents of children with no septal deformity. CONCLUSIONS: There is a high positive correlation between the appearance of type 6 septal deformities in both mothers and fathers of children with this type of deformity. The high correlation in the incidence of type 6 nasal deformity in mothers and their children and in fathers and their children suggests that this type of nasal deformity is inherited. Most authors hold that only posterior septal deformities result from inheritance factors, while anterior deformities result from environmental factors, that is, from injury to the nose and the central massif of the face. However, our study of type 6 deformities shows that certain types of anterior deformities can be inherited.

Adolescent↗
PubMed2006

A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness.

OBJECTIVE: Mutations in mtDNA are thought to be responsible for the pathogenesis of maternally inherited diabetes. Here, we report a family with maternally inherited diabetes and deafness whose members did not harbour the mtDNA A3243G mutation, the most frequent point mutation in mitochondrial diabetic patients. This study aimed to investigate a possible other mtDNA mutation and its prevalence in type 2 diabetic patients. METHODS: Height, body weight, waistline, and hip circumference were measured and serum biochemical marks determined in all members of the family. In addition, a 75 g oral glucose tolerance test and electric listening test were conducted in these members. Genomic DNA was prepared from peripheral leukocytes. Direct sequencing of PCR products was used to detect the mtDNA mutation in this family. The prevalence of mtDNA G3421A nucleotide substitutions was investigated by restriction fragment length polymorphism analysis in 1350 unrelated type 2 diabetic patients recruited by random cluster sampling from the central city area of Shanghai, China. RESULTS: (1) A new missense homoplasmic mutation of mtDNA G3421A was found in a maternally inherited diabetic family and existed neither in 1350 unrelated type 2 diabetic patients nor in 50 non-diabetic individuals. (2) The mode of mutation and diabetes transmission was typical maternal inheritance in this family. (3) All diabetic family members were found to have an onset at 35-42 years of age, accompanied by deafness of varying degrees. CONCLUSION: mtDNA G3421A (Val39Ile) found in a family with maternally inherited diabetes and deafness is a novel missense mutation. Whether this is a diabetogenic mutation and its effect on mitochondrial function needs to be further studied.

Adolescent↗
PubMedDate not supplied

Management of anthelmintic resistance: inheritance of resistance and selection with persistent drugs.

Resistance to the benzimidazole (BZ) anthelmintics is inherited as an incomplete dominant/ incomplete recessive trait and is now widespread in populations of gastrointestinal nematode parasites of sheep. Unlike benzimidazole resistance, which is common in Haemonchus contortus, Trichostrongylus colubriformis and Ostertagia circumcincta, resistance to levamisole is relatively rare in H. contortus, although common in the other 2 species. One explanation for the slow spread of resistance to levamisole in H. contortus is that it is inherited as an autosomal recessive trait, while in T. colubriformis levamisole resistance is inherited as a recessive sex-linked trait. With the introduction of the avermectin/milbemycin class resistance has developed to the relatively short-acting ivermectin, but this time it is inherited as a completely dominant trait. The potentially more serious situation of a persistent anthelmintic selecting a dominant resistance gene was investigated using a simulation model. Efficacy against incoming infective larvae (L3) was assumed to decline or remain high over the period of drug persistence (3 days to 4 weeks), thus allowing the estimation of the relative importance of selecting resistant L3s on the development of resistance in the worm population. These factors were also examined against a background of initial efficacy levels, against adults, and mode of inheritance. Persistence and initial efficacy were found to be far more important in determining the rate of selection for resistance than was selection of resistant L3 as drug efficacy declined.

Animals↗
PubMed1998

Transmission disequilibrium of maternally-inherited CTLA-4 microsatellite alleles in idiopathic recurrent miscarriage.

To elucidate the mechanisms that facilitate tolerance at the maternal-fetal interface, we are investigating the role of genes that are involved in peripheral self-tolerance in couples with idiopathic recurrent miscarriage. CTLA-4 is a negative regulator of T-cell proliferation and has been associated with human autoimmune disease. An AT(n) polymorphism in the 3'-untranslated region (UTR) of the human gene results in AT stretches that vary in length from 16 to 46 bp. We hypothesized that long stretches of AT repeats would result in mRNA instability, and reduced fetal survival in humans. We examined the transmission of AT(n) alleles in 60 couples with a history of > or = 3 unexplained spontaneous abortions to their 51liveborn children and 10 abortuses. The shorter allele was transmitted from heterozygous mothers to 26 of 35 liveborn children (chi2 = 8.3, P = 0.0040) and to three of nine aborted fetuses (chi2 = 1.0, P = 0.317). The shorter allele was transmitted from heterozygous fathers to 15 of 32 liveborn children (chi2 =0.12, P=0.726) and to five of eight aborted fetuses (chi2 = 0.5, P = 0.480). Furthermore, liveborn fetuses who inherited smaller alleles were more likely to represent the first successful pregnancy than liveborn fetuses who inherited larger maternal alleles (Pexact = 0.044) and fetuses of first pregnancies that inherited the smaller allele were significantly more likely to survive to term (Pexact = 0.0086). The preferential transmission of maternally-inherited shorter alleles to liveborn children, but random transmission of paternally-inherited alleles, suggests that CTLA-4 may be imprinted in humans and that this gene may play a role in inducing or maintaining tolerance at the maternal-fetal interface.

Abatacept↗