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PubMed2000

[Identification of mixed major genes and polygenes inheritance model of quantitative traits by using DH or RIL population].

The accuracy of the mixed inheritance analysis of quantitative traits with larger experimental error could be improved while using DH or RIL population. The segregation analysis method of identifying mixed major genes and polygenes inheritance model, including linkage inheritance model, of quantitative traits by using DH or RIL population was developed in this paper. The method may be applied to identify the mixed major gene and polygenes inheritance model of quantitative traits, estimate genetic effects and variances of major genes and polygenes, and the recombination value while there is linkage between two major genes. Finally, an example was used to illuminate the above procedure.

Genetic Linkage↗
PubMed2001

Effects of inherited thrombophilic mutations in an adolescent with antiphospholipid syndrome and systemic lupus erythematosus.

Thrombophilia can result from either inherited or acquired conditions. We describe a teenager who developed extensive thrombosis requiring aggressive and prolonged anticoagulation. Laboratory evaluation revealed an acquired lupus anticoagulant, consistent with the antiphospholipid antibody syndrome (APS). DNA analysis revealed inherited thrombophilic mutations in the factor V and methylene tetrahydrofolate reductase genes. We believe that the combination of inherited and acquired hypercoagulable conditions affected her therapeutic response to anticoagulant therapy. Inherited thrombophilic DNA mutations may contribute to the hypercoagulability observed in patients with acquired thrombophilic conditions such as APS and systemic lupus erythematosus.

Adolescent↗
PubMed2001

Inherited thrombophilic risk factors in a large cohort of individuals referred to Italian thrombophilia centers: distinct roles in different clinical settings.

BACKGROUND AND OBJECTIVES: Despite inherited thrombophilic risk factors being strongly associated with vein thrombosis, decisions on whether to screen subjects for these factors vary in different clinical settings. DESIGN AND METHODS: We calculated the prevalence of inherited thrombophilic risk factors in a large cohort of patients (n=1,238) with different clinical manifestations of vein thromboembolism. In the present cohort, screening for inherited thrombophilia was worthwhile among patients who developed vein thrombosis of the leg or cerebral vein thrombosis. Carriers of FV Leiden or FII A(20210) mutation more frequently had had deep vein thrombosis of the leg (OR: 4.35; 95% CI: 3.39-5.60), superficial vein thrombosis (OR: 3.34; 95% CI: 2.06-5.41), or cerebral vein thrombosis (OR: 2.77; 95% CI: 1.10-6.96). RESULTS: The screening program appeared to have a limited relevance in patients with isolated pulmonary embolism (OR: 2.13; 95% CI: 1.28-3.54), or mesenteric vein thrombosis (OR: 2.05; 95% CI: 1.22-3.44). INTERPRETATION AND CONCLUSIONS: The lack of association with inherited thrombophilia does not justify routine screening of patients with thrombosis of the upper extremities or with retinal vein thrombosis.

Adolescent↗
PubMed2000

[Investigation report on the inherited characteristics of congenital preauricular fistula].

OBJECTIVE: To further analyse the inherited characteristics of congenital preauricular fistula. METHOD: Analysed the familial incidence of 8 cases out of 73 (95 ears) which had been cured and investigated in our hospital in the past 16 years. RESULT: The disease could be inherited from either parents; It was of autosomal dominant in type; It was not sex-linked; They inherited either in the same side or both sides; It could be transferred between every other generations. CONCLUSION: All these were resulted in that congenital preauricular fistula was autosomal dominant inheritance with incomplete dominant.

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↗
PubMed1979

Multifactorial inheritance with cultural transmission and assortative mating. III. Family structure and the analysis of separation experiments.

Demographic data about family composition or structure in the United States is reviewed. About 25% of white children and a majority of black children are reared in either broken or extended families, and this must be taken into consideration for valid studies of cultural inheritance. Atypical family structures are described including those in which parents include: biological parents, stepparents, grandparents, uncles, aunts, sibs, foster parents, and their spouses. General formulae for a wide variety of kinship correlations are derived using path analysis. The multifactorial model presented allows for cultural inheritance, polygenic inheritance, correlated sibling environments, and phenotypic assortative mating (as previously described for intact families) plus extensions necessary for the analysis of separation experiments. These extensions allow for variable family structure and differences in parental influence due to separation, age or stage of development of the child, birth order, or type of relationship. Family structure is observed to have a marked effect on familial resemblance. Computer simulation studies demonstrate marked heterogeneity among phenotypic correlations for kinships of the same degree of genetic relationship arising in different family structures. Analyses of multiple types of sibs and other relatives in variable family structures offer great promise for the study of cultural inheritance.

Adolescent↗
PubMed1980

Inheritance of acetylator phenotype in mice.

The inheritance of two acetylator traits in a new mouse model of the human isoniazid acetylator polymorphism has been characterized. A/J mice have little or no blood p-aminobenzoic acid N-acetyltransferase activity and can excrete a low ratio of acetylsulfamethazine to sulfamethazine in urine. C57BL/6J mice have considerable blood p-aminobenzoic acid N-acetyltransferase activity and can excrete a high ratio of acetylsulfamethazine to sulfamethazine in urine. The expression of the blood p-aminobenzoic acid acetylation trait in F1, F2 and backcross progeny from A/J and C57BL/6J matings is consistent with simple Mendelian inheritance of two codominant alleles. Inheritance of in vivo acetylation rate, as measured by urinary ratio of acetylsulfamethazine to sulfamethazine, is independent of the blood acetylator polymorphism and is probably governed by simple Mendelian inheritance with incomplete dominance of low urinary ratio over high. Incomplete dominance appears to be limited to animals bearing one or two genes for rapid acetylation of p-aminobenzoic acid by blood hemolysates.

4-Aminobenzoic Acid↗
PubMed1980

Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity.

Thiopurine methyltransferase (TPMT) catalyzes thiopurine S-methylation, an important metabolic pathway for drugs such as 6-mercaptopurine. Erythrocyte (RBC) TPMT activity was measured in blood samples from 298 randomly selected subjects. Of the subjects, 88.6% were included in a subgroup with high enzyme activity (13.50 +/- 1.86 U, mean +/- SD), 11.1% were included in a subgroup with intermediate activity (7.20 +/- 1.08 U), and 0.3% had undetectable activity. This distribution conforms to Hardy-Weinberg predictions for the autosomal codominant inheritance of a pair of alleles for low and high TPMT activity, TPMT(L) and TPMT(H), with gene frequencies of .059 and .941, respectively. If RBC TPMT activity is inherited in an autosomal codominant fashion, then subjects homozygous for TPMT(H) would have high enzyme activity, subjects heterozygous for the two alleles would have intermediate activity, and subjects homozygous for TPMT(L) would have undetectable activity. The segregation of RBC TPMT activity among 215 first-degree relatives in 50 randomly selected families and among 35 members of two kindreds and one family selected because they included probands with undetectable RBC enzyme activity were also compatible with the autosomal codominant inheritance of RBC TPMT. For example, in eight matings between subjects with intermediate activity (presumed genotype TPMT(L)TPMT(H)) and subjects with high activity (presumed genotype TPMT(H)TPMT(H)), 47% (8/17) of the offspring had intermediate activity. This value is very similar to the 50% figure expected on the basis of autosomal codominant inheritance (chi(2) ([1]) = .059). Further experiments are required to determine whether this genetic polymorphism for an important drug metabolizing enzyme may represent one factor in individual variations in sensitivity to thiopurines.

Adult↗
PubMed1978

Aplasia of the Müllerian system: evidence for probable sex-limited autosomal dominant inheritance.

Thirteen unrelated females ranging in age from 15 to 28 years old have recently been recognized to have aplasia of the müllerian duct derivatives. They presented one or both of two major complaints: amenorrhea and difficulty or pain on attempted sexual intercourse. Clinically all cases were characterized by absence of vagina and failure to palpate the uterus rectally; normal mature external genitalia; normal stature, intellect, hearing and vision; normal secondary sex characteristics including breast development, pubic and axillary hair. Libido was normally preserved and sexual self-identification was unambiguously feminine. Apart from the pelvic findings, the affected individuals were phenotypically unremarkable women. Laparoscopic examination revealed absent uteri, absent or rudimentary tubes, but normally developed ovaries. Cytogenetic evaluation disclosed normal female karyotypes with normal banding patterns on all patients. Endocrine investigations revealed female cyclic pattern consistent with normal ovarian endocrine function. Biopsy specimens on the ovaries of 5 patients were histologically unremarkable with evidence of normal follicular activity. Investigation of the families of these patients revealed similarly affected individuals in 10 families. In 8 of these the pattern of transmission was consistent with autosomal dominant inheritance with sex limitation to XX individuals; in 2 the distribution of affected individuals was compatible with either sex-limited autosomal dominant or autosomal recessive inheritance. Though unlikely, polygenic inheritance remains a formal possibility. In 3 families, apart from the propositae, no other affected females were ascertained. In these, the etiology is either teratogenic or genetic with autosomal dominant or recessive inheritance, and sex limitation to females. Three further cases with partial aplasia or the Rokitansky-Kuster-Hauser syndrome (RKHS) were ascertained. No other similarly affected individuals were encountered in their families.

Adolescent↗
PubMed1995

Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease.

Inherited resistance to activated protein C (APC) is a frequent cause of familial thrombosis. It is associated with a factor V gene point mutation replacing arginine506 in the APC-cleavage site with a glutamine. Thrombotic events are rare during childhood even in patients with homozygous APC-resistance. We now wish to report on a case of severe venous thrombosis, in a 10-year-old boy. He was found to have pronounced APC-resistance due to homozygous factor V gene mutation in combination with inherited type I protein S deficiency. The two traits were independently inherited in the family. The APC-resistance was partially corrected by adding factor V, whereas added protein S was without effect. This is the first reported case of homozygous APC-resistance combined with another inherited prothrombotic disorder. It illustrates how multiple genetic defects may provoke thrombosis at young age and emphasizes the need of complete evaluation of thrombotic patients in order to determine whether multiple risk factors exist.

Adult↗
PubMed1976

Inherited biochemical defects affecting the kidney.

The identification of a disease entity as one that is the result of a heritable defect offers the physician an opportunity to intervene in a variety of ways. As emphasized, knowledge of the heritable pattern of a particular disease allows the physician an opportunity to counsel family members in personal disease risk and the offspring. Such genetic counseling results in a reduction of affected cases for many inherited diseases. There is every expectation that similar approaches would be effective for inherited renal diseases. The heritable diseases are a favored group for investigative purposes since these diseases result from a single gene defect no matter how plieotropic the effects of that defect. Thus the investigator is capable of constant probing with tools available for identifying that one event or component that lies at the basis of the disease. The emphasis of this chapter is on those inherited renal diseases for which we have reached a high level of understanding of this single defect. In many of these diseases a single enzyme is identified as deficient and is the presumed genetic defect. In others (cystinuria, RTA, and cystinosis) the precise biochemical answers appear close at hand. Thus a variety of therapeutic approaches to overcome either the gene defect or ill effects of the gene defect emerge for diseases involving the kidney and are listed in Table 7. For some of these diseases the new diagnostic technique of prenatal diagnosis can be used (Table 8). This genetic option provides couples at risk for bearing affected offspring with reduced risk. For a number of other diseases that are not identified by amniocentesis, this risk can be effectively lowered to acceptable levels by use of artificial insemination. Thus the inherited diseases of the kidney are amenable to medical intervention at a variety of levels. Such intervention can predictably lead to a lowering of both the incidence and consequences of these gene defects.

Acidosis, Renal Tubular↗
PubMed1995

Intermediate inheritance of Tourette syndrome, assuming assortative mating.

Segregation analysis incorporating assortative mating was used to test for major locus inheritance of Tourette syndrome in a single large pedigree containing 182 members. The analysis provided evidence of a major locus with an intermediate inheritance pattern for which the penetrance was estimated from the data as 28% in heterozygotes and 98%-99% in homozygotes. A significant assortative mating correlation was estimated from the data as 70%-79%. In contrast, when assortative mating was not included in the model, intermediate inheritance was not inferred. If, in addition, constancy of the allele frequencies across generations was not assumed, Mendelian transmission was rejected. Each subject, affected or unaffected, was assigned a score reflecting the presence and severity of symptoms. Higher means scores in affected homozygotes than in affected heterozygotes suggested greater severity in homozygotes: genotype information was obtained from genotype probabilities computed assuming intermediate inheritance.

Adolescent↗