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Results for “multifactorial inheritance”

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PubMed2004

Intergenomic consensus in multifactorial inheritance loci: the case of multiple sclerosis.

Genetic linkage and association studies define chromosomal regions, quantitative trait loci (QTLs), which influence the phenotype of polygenic diseases. Here, we describe a global approach to determine intergenomic consensus of those regions in order to fine map QTLs and select particularly promising candidate genes for disease susceptibility or other polygenic traits. Exemplarily, human multiple sclerosis (MS) susceptibility regions were compared for sequence similarity with mouse and rat QTLs in its animal model experimental allergic encephalomyelitis (EAE). The number of intergenomic MS/EAE consensus genes (295) is significantly higher than expected if the animal model was unrelated to the human disease. Hence, this approach contributes to the empirical evaluation of animal models for their applicability to the study of human diseases.

Animals↗
PubMed1979

Multifactorial inheritance with cultural transmission and assortative mating. II. a general model of combined polygenic and cultural inheritance.

A general linear model of combined polygenic-cultural inheritance is described. The model allows for phenotypic assortative mating, common environment, maternal and paternal effects, and genic-cultural correlation. General formulae for phenotypic correlation between family members in extended pedigrees are given for both primary and secondary assortative mating. A FORTRAN program BETA, available upon request, is used to provide maximum likelihood estimates of the parameters from reported correlations. American data about IQ and Burks' culture index are analyzed. Both cultural and genetic components of phenotypic variance are observed to make significant and substantial contributions to familial resemblance in IQ. The correlation between the environments of DZ twins is found to equal that of singleton sibs, not that of MZ twins. Burks' culture index is found to be an imperfect measure of midparent IQ rather than an index of home environment as previously assumed. Conditions under which the parameters of the model may be uniquely and precisely estimated are discussed. Interpretation of variance components in the presence of assortative mating and genic-cultural covariance is reviewed. A conservative, but robust, approach to the use of environmental indices is described.

Computers↗
PubMed1978

Multifactorial inheritance with cultural transmission and assortative mating. I. Description and basic properties of the unitary models.

A general linear model of familial resemblance is described which allows for cultural transmission from parent to offspring, polygenic inheritance, phenotypic assortative mating, common environment, maternal and paternal effects, and threshold effects. Three special cases are described in detail which are particularly useful when data are only available about a few classes of relatives reared in intact families. The cultural model, the polygenic model, and the pseudopolygenic model share the common feature that all factors which are transmitted from parent to offspring may be represented by one parameter without any loss of information. We introduce a new model, termed the unitary model, which includes these models and is appropriate when combined genetic and cultural transmission is present and when data are available only for individuals reared in intact nuclear families. The basic properties of these models are explored using path analysis and computer simulation, including description of the relationship between parameters under random and assortative mating, rate of approach to equilibrium, and constraints on the magnitude of the parameters. General formulae for familial resemblance in extended pedigrees are given for any ancestor or descendant of either vertical or collateral relatives. Estimation procedures are described and a FORTRAN program TAU, available upon request, is used to provide maximum likelihood estimates of the parameters from reported correlations. A powerful test for detecting the presence of cultural transmission is suggested and applied to simulated data and to data sets reported by others for human stature, for which cultural transmission is suggested. In addition, it is shown that there is no need to postulate dominance to account for available data about height.

Environment↗
PubMed1999

Patterns of genetic inheritance.

Neonatal nurses need to understand the basic patterns of genetic transmission. This article, the first in a series, provides an overview of Mendel's laws and discusses five types of transmission: single gene inheritance, chromosomal inheritance, multifactorial inheritance, cytoplasmic inheritance, and somatic cell mutations.

Extrachromosomal Inheritance↗
PubMed1990

RFLP alleles at the tyrosine hydroxylase locus: no association found to affective disorders.

Affective disorders are usually referred to as being inherited multifactorially. The contribution of a gene locus in illnesses displaying multifactorial inheritance may be assessed by searching for associations of alleles to the illness. The tyrosine hydroxylase gene encodes the rate-limiting enzyme in the synthesis of catecholamines and might be a candidate for causing the manic-depressive phenotype. Therefore, we tested 88 patients with affective disorders and 99 healthy control persons for association of restriction fragment length polymorphism (RFLP) alleles at the tyrosine hydroxylase locus. The comparison of allele or genotype frequencies did not reveal any significant differences between the two groups.

Adolescent↗
PubMedDate not supplied

Familial truncus arteriosus: a possible autosomal-recessive trait.

Truncus arteriosus is a relatively uncommon congenital malformation. It accounts for approximately 1% of congenital heart diseases. The defect occurs sporadically but 22q11 deletion is frequently noted in such patients with conotruncal defects. We studied six cases of TA in four closely related families. Analysis of karyotypes in these cases was normal. Family 1 has one affected male infant who was born in 1998. Family 2 has two affected children (one male and one female) who were born in 1989 and 1995, respectively. They have four other normal children. Family 3 has two affected children (one male and one female) who were born in 1981 and 1984, respectively. They have three other normal children. Family 4 has one affected male born in 1998 and another healthy child. All parents of all affected children are double cousins. The data in this study are compatible with an autosomal-recessive inheritance, but multifactorial inheritance may also play a role.

Chromosome Aberrations↗
PubMed1975

Diabetes mellitus: discrimination between single locus and multifactorial models of inheritance.

Family data from 6,559 diabetic propositi were analyzed using the method of complex segregation analysis in an attempt to discriminate the two models of two-allele single-locus inheritance and multifactorial inheritance for early, middle, and late onset diabetes. The three parameters in the single locus model were: degree of dominance, penetrance, and proportion of phenocopies. In early onset diabetes, the heritability estimated from the multifactorial model was so high as to inidcate major gene action. In middle and late onset diabetes, best fitting single-locus models were found to explain the data as well as the multifactorial model.

Adolescent↗
PubMed1990

[Genetic counseling: evaluation of 1000 records].

1000 cases of genetic counseling have been reviewed. Most patients are sent to the genetic center by gynecologists (68.4%), mostly because of a personal or previous familial history (64%). This previous history concerns mainly congenital malformations (44%, 283/640) and mental retardation (24%, 154/640). Generally, the patients consult outside a pregnancy, nevertheless one fourth comes after conception and this occurs more often when the proband is a family member (38% versus 19% when the proband is a spouse and 20% when the proband is a child). Ten percent of the patients knowing they could be at risk because spouse or child is affected consult after having already had a child or having had another child. The mode of inheritance of the diseases for which patients with previous family history consult is as follows: mendelian inheritance (36%), multifactorial inheritance (19%), chromosomal defect (18%), non genetic (5%), variable inheritance (2%), unknown (15%) and insufficient information (5%). The majority of patients coming for previous familial history could be tranquilized, the recurrence risk was either small or minimal. In 2.6% of the cases, a high recurrence risk has been given and the risk could not be evaluated in 7% of the cases. The importance of genetic counseling is stressed by the fact that antenatal diagnosis could be proposed to half of the patients with a recurrence risk equal or higher than 1%.

Chromosome Aberrations↗
PubMed1986

Genetic study on ossification of posterior longitudinal ligament.

Family studies and blood grouping tests were conducted in an attempt to elucidate the etiology and genetic mechanism of ossification of posterior longitudinal ligament of the spine (OPLL). Analysis of the collected date revealed the following results: Testing of inheritance pattern Fitness of OPLL to the hypotheses of simple recessive inheritance, simple dominant inheritance and multifactorial inheritance was tested, but fitness to any one of these hypotheses was statistically denied. Analyses of OPLL and genetic markers A comparative study was made between the OPLL patients and healthy donors residing in Tokyo on the phenotype frequency of the blood groups (eight systems), serum groups (six systems) and red cell enzyme groups (three systems). A significant association of OPLL with MN blood groups, Hp types and PGM1 types was observed. Examination of the correlation after combining MN and Hp showed the coefficient of contingency to be C = 0.6739 and that after the multiple combination of MN, Hp and PGM1 revealed the coefficient of contingency to be C = 0.8923, indicating a remarkably high correlation.

Adult↗
PubMed1989

Test of genetic heterogeneity of cleft lip with or without cleft palate as related to race and severity.

The question of possible heterogeneity among population groups and phenotypic groups on the role of major gene in the etiology of cleft lip with or without cleft palate [CL(P)] was examined using the uniformly collected data in Hawaii. Complex segregation analysis was used to analyze patterns of family resemblance under the mixed model incorporating the effects of major gene and multifactorial inheritance. Analysis of the entire data showed superior fit of the mixed model including the effects of both major gene and multifactorial inheritance over the model of major gene alone or multifactorial inheritance alone. No significant heterogeneity could be detected between the high-incidence group (Oriental or Japanese) and the low-incidence group (non-Oriental) in the underlying general model, although higher heritability was observed in general. When families were classified into "severe" and "mild" phenotypes based on cleft lip vs. cleft lip and palate or unilateral vs. bilateral cleft in the proband, no significant differences could be detected between the two types in the underlying genetic model.

Cleft Lip↗
PubMed1976

Allelic restriction: a biologic alternative to multifactorial threshold inheritance.

Contrary to the argument regarding the conservatism of the multifactorial threshold model for describing the inheritance of congenital malformations, little biological insight has resulted from the series of tautological, albeit grandiose, mathematical assumptions currently comprising the basis for this hypothesis. The working hypothesis of this presentation is to apply the "allelic restriction" model to the genesis of common human congenital malformations. New population data concerning isolated cleft palate closely fit the predictions of the proposed hypothesis. Recognising the heterogeneity of cleft palate as well as other common congenital malformations (namely, the difference between phenocopies, definable syndromes, and true hereditary cases), the "allelic restriction" model accords with the apparent greatly "reduced penetrance" of the heriditary cases. This model is meant to apply only to those congenital malformations which have both a high population frequency and a relatively small number of families showing an atypical type of vertical transmission.

Adult↗