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At least 127 records · Page 7Linked to original sources
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↗
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↗
PubMed1985

X-chromosome-linked inheritance of the variant thyroxine-binding globulin in Australian aborigines.

The inheritance of quantitative changes in serum T4-binding globulin (TBG; reduced or elevated serum levels) and electrophoretic variants of TBG have been shown to be X-chromosome linked. However, it recently was suggested that another TBG variant, widely distributed in the Australian Aborigine population, may be inherited as an autosomal dominant trait. This communication deals with studies directed to the elucidation of the mode of inheritance of the Aboriginal variant TBG. By measuring the rate of denaturation of TBG at 56 C, we identified three distinct types of TBG in Australian Aborigines. One was a relatively heat-stable TBG (mean t1/2, 58.0 min; range, 68-53 min; group A), indistinguishable from TBG in caucasians (mean t1/2, 55.1; range, 67-43); another was a heat-labile TBG (mean t1/2, 20.8 min; range, 23.7-18.4 min; group C); and a third had intermediate values (mean t1/2, 35.7 min; range, 39.5-30.6 min; group B). Serum samples from the latter group belonged exclusively to women. Assuming that individuals from group A were homozygous for the caucasian type TBG (TBGCC), those from group C were homozygous for the Aboriginal variant of TBG (TBGAA), and individuals from group B were heterozygous (TBGCA), gene frequencies were calculated for the product of TBGC and TBGA, and the incidence of expected genotypes was compared to that observed. The results are compatible with X-chromosome, but not autosomal, inheritance, with a gene frequency of TBGC of 0.4118 and of TBGA of 0.5882. The ability to identify individuals who are heterozygous for the Aboriginal variant TBG confirmed that the structural gene of TBG in man is located on the X-chromosome.

Adolescent↗
PubMed1995

A critique of the possibility of genetic inheritance of homosexual orientation.

Many workers in human sexuality have tried to discover causes of sexual orientation. No one theory has proved to be satisfactory. Studies of monozygotic and dizygotic twins, some of whom have been reared separately and some together, suggest that there may be an inherited component of homosexuality. Other studies, particularly those concerned with the evolution of human sexuality, question such a possibility. A further question arises because a large part of the human population is neither exclusively homosexual nor exclusively heterosexual. This paper will examine the evidence for genetic inheritance presented by twin and family studies. It will explore ways in which a gene favoring a homosexual orientation but not reproduction could continue to exist in a population. The importance of defining terms that refer to sexual orientation will be discussed in the context of determining exactly what may be inherited. Finally, the effects of accepting genetic inheritance as the cause of sexual orientation will be discussed.

Female↗
PubMed1975

A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people.

A difference in the inheritance of diabetes has been shown between the families of twenty-six patients with maturity-onset type diabetes of young people (MODY) and families of thirty-five patients with classical juvenile-onset diabetes (JOD). In the families of MODY: 1) twenty-two of twenty-six (85 per cent) propositi had a diabetic parent; 2) 46 per cent of families showed direct vertical transmission of diabetes through three generations; 3) of forty-seven tested siblings twenty-five (53 per cent) had latent diabetes; 4) the diabetic phenotype in the families was consistent, most affected individuals having a noninsulin requiring type of disease. These findings are compatible with autosomal dominant inheritance of MODY, although they do not exclude multifactorial inheritance. In contrast, in the families of JOD: 1) only four (11 per cent) of propositi had a diabetic parent; 2) three generation inheritance was found in only two (6 per cent) of JOD families, and 3) of seventy-four tested siblings eight (11 per cent) were diabetic. This difference provides further evidence of genetic heterogeneity in diabetes mellitus and indicates that there is a need for careful definition of the phenotype of diabetes in populations in which the genetics of diabetes is to be analyzed. Diabetes 24:44-53, January, 1975.

Adolescent↗
PubMed1981

Inherited renal disease and genetic counseling.

Inherited renal abnormalities and diseases are less common than acquired disorders. However, they are of great interest because their study results in increased understanding of the embryogenesis and physiology of the kidney, the pathogenesis of acquired disease, improved therapeutic approaches and accuracy of genetic counseling. Inherited defects of the kidney may be structural, functional or part of genetically transmitted systemic diseases that have major effects on renal structure and/or functions. Most structural defects of the kidney, with the exception of varying forms of cystic disease and the hereditary nephritides, are congenital and only rarely inherited in a Mendelian sense. The majority of genetically transmitted abnormalities of proximal and distal tubular function are caused by inborn metabolic errors or enzyme defects and deficiencies. Amniocentesis, ultrasonography and enzymatic assays have made the prenatal diagnosis of many inherited renal diseases possible so that more accurate counseling early therapeutic intervention may be provided.

Adolescent↗
PubMed1980

Distribution and inheritance of low serum thyroxine-binding globulin levels in Australian Aborigines: a new genetic variation.

Evidence is presented that low serum thyroxine-binding globulin (TBG) levels in Aborigines are widely distributed throughout Australia, and that these are inherited rather than acquired. Levels of TBG in children, and lack of any correlation of low TBG levels with alcohol consumption or liver dysfunction, suggest that the low levels are not acquired in adult life. Genetic studies in eight families indicate (with one exception) an autosomal dominant pattern of inheritance with direct male-to-male transmission. These findings are in marked contrast to the much rarer X-linked pattern of inheritance of low TBG levels in Caucasians. This type of prevalent and inherited low level of TBG in serum appears so far to be unique to the Aboriginal race. The synthesis (or degradation) of TBG may be controlled by an autosomal gene in Aborigines.

Adolescent↗
PubMed1992

The inheritance of type I and type III von Willebrand's disease in Israel: linkage analysis, carrier detection and prenatal diagnosis using three intragenic restriction fragment length polymorphisms.

Three intragenic restriction fragment length polymorphisms (RFLPs) were used to study linkage and analyse the mode of inheritance in type I and type III von Willebrand's disease (vWD). In two families linkage was established between Sac I RFLPs and the inheritance of type I vWD. RFLP analysis of amniocyte DNA from a potentially affected foetus enabled us to establish a prenatal diagnosis of vWD in a third family with type I vWD. Linkage was also established in four families between the Sac I and two Taq I RFLPs and the inheritance of type III vWD. All type III probands were homozygotes and inherited the same mutant vWF allele from both parents. Heterozygous carriers from one type III family were phenotypically normal and could be detected only by linkage analysis, whereas carriers from the remaining three type III families were asymptomatic but had decreased values of vWF antigen and activity. RFLP-based linkage analysis of vWD alleles provides a way to improve the diagnostic precision, detect carriers, and may be useful for prenatal diagnosis of type III vWD.

Female↗
PubMed1990

Common major gene inheritance of extreme overweight.

We studied 3925 individuals in 961 families to determine the mode of inheritance of overweight. As an index of overweight, we examined body mass index. Our analyses indicate that the most likely genetic model for susceptibility to overweight included moderate polygenic inheritance (34% of variance resulting from many genes with small effects) and common (21% frequency) recessively expressed major genes (a few genes with large effects on the individuals who possess them). Standard statistical criteria for accepting both polygenic and major gene inheritance were met, including tests of Mendelian transmission. These results suggest that recessive major gene inheritance of overweight may be common and that homozygosity for overweight susceptibility alleles often results in overweight. Clinical, biologic, and empirical observations all suggest genetic heterogeneity, that is, more than one predisposing gene.

Adult↗
PubMed1989

Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance.

Progressive hereditary nephritis is subdivided into Alport's syndrome (with extrarenal involvement) and hereditary nephritis without deafness. Three modes of inheritance have been described: X-linked dominant, autosomal dominant, and autosomal recessive. We reviewed the mode of inheritance in 48 kindred with hereditary nephritis (41 with Alport's syndrome and 7 with hereditary nephritis without deafness). It was presumed X-linked dominant in 34 Alport's syndrome and 6 hereditary nephritis without deafness, autosomal dominant in five hereditary nephritis and one hereditary nephritis without deafness, and autosomal recessive in two Alport's syndrome. We studied the cumulative renal survival of 149 patients, 128 (76 males, 52 females) with Alport's syndrome and 21 (10 males, and 11 females) with hereditary nephritis without deafness. Major prognostic factors were the patient's sex (median renal survival in males and females being respectively 32 versus 61 years in Alport's syndrome and 34 versus 57 years in hereditary nephritis without deafness), and the mode of inheritance (median renal survival in males being 25 years in X-linked dominant Alport's syndrome versus 51 years in autosomal dominant Alport's syndrome). The presence of hearing loss in the kindred or in the patient himself did not appear as a significant prognostic factor. We conclude that Alport's syndrome and hereditary nephritis without deafness are predominantly X-linked dominant diseases with the same renal outcome, and that in Alport's syndrome the patient's sex and the mode of inheritance are two independent prognostic factors.

Adult↗
PubMed1985

X-linked inheritance of epidermodysplasia verruciformis. Genetic and virologic studies of a kindred.

We describe a family with typical epidermodysplasia verruciformis (EV) in which only male members are affected. Whereas none of the index patient's ten children have EV, four of eight grandsons born to his daughters have inherited the disorder. All are infected with human papillomavirus (HPV) 3 and HPV 8. The inheritance in this kindred most likely results from an X-linked recessive genetic defect. Since other kindreds have been described with autosomal inheritance, this novel inheritance pattern suggests that the persistent high clinical susceptibility to HPV infection characteristic of EV may result from defects in either of at least two different genetic loci, one of which may be located on the X chromosome.

Animals↗
PubMed1987

[Inheritance and expression of dominant genes with variable penetration: the evolutionary aspect].

According to up-to-date literature, one of the approaches to elucidating the essence of evolutionary events consists in admitting the importance of events which change genome activity. A crucial way of reorganization of gene activity is the inhetrited activation or inactivation of the genes. "Dormant" gene hypothesis and related data are reviewed in this connection. Most attention is concentrated on the study of inheritance and penetrance of fused gene in mice. By means of individual genetic analysis, it became possible to make a clear-cut distinction between the phenomenon of the lowered gene penetrance and its inherited inactivation. It was shown that low penetrance is a more frequent event which seems to mask the inherited inactivation of the gene. A general scheme of the phenomena studied is proposed. The classical conceptions claiming the existence of a reserve of hereditary variability concern mainly the recessive and codominant mutations. However, the role of dominant and semidominant mutations in the course of functional reconstruction of species may be important. During animal domestication, for example, everyone can see a lot of dominantly inherited characters appearing de novo. D.K. Belyaev's conception about "dormant" gene reserve is of great importance in this connection. Opening of the reserve at a particular evolutionary stage may drastically increase the genetic variability and lead to appearance of evolutionary novelty.

Animals↗
PubMed1988

Inheritance of idiopathic torsion dystonia among Ashkenazi Jews.

The mechanism(s) of inheritance of primary dystonia are unclear. An autosomal recessive form among Ashkenazi Jews and an autosomal dominant form among non-Jews have been proposed. However, the patterns of inheritance, particularly among Ashkenazim, are controversial. In this report we have reviewed the literature particularly as it pertains to the mode of inheritance among Ashkenazim. We also report the results of a pilot study of the families of 25 independently ascertained Ashkenazi probands with onset of primary dystonia before age 27 years. A total of 91/98 living first-degree relatives were examined; of these 91, 86 were greater than or equal to 8 years of age at time of examination and were included in our analysis. Overall, 14/86 (16.3%) of first-degree relatives were affected. We found 11.4% (4/35) of parents, 22.2% (8/36) of siblings, and 13.3% (2/15) of offspring were definitely affected. This finding of an approximately equal risk to parents, siblings, and offspring is consistent with autosomal dominant transmission with a minimum penetrance of 32.6%. Our findings do not support autosomal recessive or multifactorial inheritance.

Adolescent↗
PubMed1987

Inheritance of Sinclair swine cutaneous malignant melanoma.

Genetic studies of familial human cutaneous malignant melanoma have failed to support a single mode of inheritance. To eliminate the complexities of genetic heterogeneity, we have turned to appropriate animal models to gain insights into possible genetic mechanisms that may be applicable to the human. Cutaneous malignant melanoma of Sinclair miniature swine is an inherited malignancy with many of the histopathological characteristics of human melanoma. The actual mode of inheritance of the melanoma has not been determined. Recently, we initiated experiments to characterize the swine major histocompatibility complex in melanoma- and nonmelanoma-bearing animals. These experiments led to the discovery of two loci that are involved in the expression of exophytic melanomas. The first locus lies within the swine major histocompatibility complex where one particular haplotype produces a phenotype in which the effects of a second locus are fully penetrant. The second locus segregates independently of the major histocompatibility complex. The melanoma-producing allele at this second locus is inherited in the heterozygous state and requires a somatic mutation of the normal allele to initiate tumor development.

Alleles↗