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PubMed2006

Inference of bacterial microevolution using multilocus sequence data.

We describe a model-based method for using multilocus sequence data to infer the clonal relationships of bacteria and the chromosomal position of homologous recombination events that disrupt a clonal pattern of inheritance. The key assumption of our model is that recombination events introduce a constant rate of substitutions to a contiguous region of sequence. The method is applicable both to multilocus sequence typing (MLST) data from a few loci and to alignments of multiple bacterial genomes. It can be used to decide whether a subset of isolates share common ancestry, to estimate the age of the common ancestor, and hence to address a variety of epidemiological and ecological questions that hinge on the pattern of bacterial spread. It should also be useful in associating particular genetic events with the changes in phenotype that they cause. We show that the model outperforms existing methods of subdividing recombinogenic bacteria using MLST data and provide examples from Salmonella and Bacillus. The software used in this article, ClonalFrame, is available from http://bacteria.stats.ox.ac.uk/.

Bacteria↗
PubMed1998

[Three sets of twins in three successive generations through the maternal line].

It is generally held that there are genetic factors for dizygotic (DZ) twinning, but the pattern of inheritance is far from clear. We report on a rare pedigree with three sets of spontaneous DZ female twin births in three successive generations. To our knowledge no similar pedigrees have been reported in literature. Zygosity determination in three pairs of twins was performed with ABO, MN and Rh blood groups from erythrocytes and with STR analysis from samples of saliva. In our pedigree, the direct transmission of the DZ twinning through the maternal line seems show an autosomal dominant pattern of inheritance. We believe that the inheritance of DZ twinning appears to be recessive in most case and autosomal dominant only in rare instances. It is plausible with the hypothesis that the expression of the dizygotic twinning trait in a mother shows a genetic heterogeneity.

Female↗
PubMed1978

[The use of the adenosine desaminase (ADA) system in paternity cases].

Authors described genetically determined hereditary polymorphisms and pattern of inheritance of the adnosindesaminase (ADA) system. After a methodical review, results of their own investigations are reported, which were the first in the Hungarian population. The incidence of the ADA phenotypes among 1234 adult persons investigated was found: ADA-1=88%, ADA 2-1=11,58%, ADA 2=0,42%. Rare phenotypes were not detected. Values of gene frequency found: ADA1=0,93,79; ADA2= 0,0621; Results of the investigation of 561 mother-child pairs are also reported. The pattern of inheritance in every case examined was found to be regular. According to the author's data the maximal (theoretical) chance of the exclusion of paternity was 5,48%. In 561 cases of discussed paternity beside the examination of the systems of A1A2BO, MN, Ss, Hp, Rh, Gm(a,x,b), INV (1), Gc, Kk, Fy(a,b), SEP, PGM, GPT, and AK the ADA system was also examined. On the base of the last examinations the paternity could be excluded in 11 (1,97%) cases. In two cases (0,36%) exclusion of the paternity was based on the results of the examination of the ADA-system only. In the biostatistical evaluation of the results of examinations of blood-groups the role of the ADA system seems to be important. Examination of ADA system in cases of disputed paternity is recommended.

Adenosine Deaminase↗
PubMed1996

Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder.

Recent studies have suggested that expanded CAG/CTG repeats contribute to the genetic aetiology of schizophrenia and bipolar disorder. However, the nature of this contribution is uncertain and difficult to predict from other known trinucleotide repeat diseases that display much simpler patterns of inheritance. We have sought to replicate and extend earlier findings using Repeat Expansion Detection in an enlarged sample of 152 patients with schizophrenia, 143 patients with bipolar disorder, and 160 controls. We have also examined DNA from the parents of 62 probands with schizophrenia or bipolar disorder. Our results confirm our earlier, preliminary findings of an association between expanded trinucleotide repeats and both schizophrenia and bipolar disorder. However, our data do not support the hypothesis that trinucleotide repeat expansion can alone explain the complex patterns of inheritance of the functional psychoses neither can this mechanism fully explain apparent anticipation.

Adult↗
PubMed1984

Spontaneous spongy degeneration of the mouse brain.

A spontaneously-occurring spongy disorder of the white matter of the central nervous system was discovered in the Charles River strain of Swiss-Webster mice and is described in this report. The disorder was transmitted with an autosomal recessive pattern of inheritance. Clinical characteristics of the affected animals included enlargement of the cranium, failure to thrive and tremor of the hind limbs when held by the tail in a suspended position. Maintenance of the colony with propagation of the disease was achieved by selective in-breeding of litter mates. Light microscopic examination of the central nervous system revealed a spongy degeneration of the white matter of the entire neuraxis. Ultrastructural studies localized the abnormality to the cell body and processes of the astrocyte which appeared distended and enlarged with dispersion of cytoplasmic organelles. Hemidesmosomes were prominent in the foot processes of astrocytes. This animal model bears a similar morphology and pattern of inheritance to Canavan's spongy degeneration of the white matter in humans and should provide a base for future investigations aimed at gaining insight into the pathogenesis of the human and this animal neurological disorder.

Animals↗
PubMed1996

Genetic and epidemiological risk factors for a malignant melanoma-predisposing phenotype: the great number of nevi.

Multiple genetic and epidemiological factors are involved in the etiology of cutaneous malignant melanoma. The phenotype defined by a great number of nevi (GNN) is consistently reported as being a major risk factor for melanoma and is likely to be under genetic control. As part of a large genetic and epidemiologic survey of melanoma in France, our goal was to understand the pattern of inheritance of GNN in 295 nuclear families ascertained through 295 melanoma probands. The GNN phenotype was defined as having 50 or more nevi vs. less than 50 nevi. Four percent of the 295 families included at least 2 GNN cases. We found that sun exposure during holidays and propensity to sunburns were significantly associated with GNN, independent of the occurrence of melanoma. Four segregation analyses of GNN were conducted, using the class D regressive logistic model, which differed according to the sampling procedure chosen (with and without the melanoma probands) and the inclusion or not of the significant risk factors. Three of these analyses led to the detection of a recessive-like major factor, which did not fit a Mendelian pattern of inheritance in two of them. Our results are discussed with respect to the low familial clustering of GNN, the type of analysis conducted, the characteristics of the model used, and the complexity of the mechanisms underlying the GNN phenotype.

Female↗
PubMed2002

[Familial dilated cardiomyopathy in patients transplanted for idiopathic dilated cardiomyopathy].

OBJECTIVE: To evaluate the prevalence, clinical features, and pattern of inheritance of familial dilated cardiomyopathy (DCM) in heart transplant patients. PATIENTS AND METHOD: Patients with idiopathic DCM who had undergone heart transplantation were invited to participate. Patients with alcohol abuse were excluded. A clinical evaluation, 12-lead ECG, echocardiogram, blood tests, and DNA extraction were performed in patients and relatives. Familial DCM was defined as the presence of at least one relative with idiopathic DCM. Possible familial DCM was considered when at least one relative had left ventricular enlargement (LVE) (> 112% predicted LVEDD). RESULTS: One hundred and ninety-nine relatives of 43 families were studied. DCM was familial in 11 probands (25.6%) and possibly familial in 11 (25.6%). Fifteen relatives had DCM (7.5%), 26 (13.1%) LVE, and 5 (2.5%) hypertrophic cardiomyopathy. The pattern of inheritance was autosomal dominant in most families. Five probands (3 with familial DCM) had antecedents of consanguinity and possible recessive inheritance. Six probands (14%, 1 with familial DCM) had relatives with conduction system defects. Creatine kinase was moderately increased in 9 relatives (4.5%), 3 of them with LVE. Fifteen patients had at least moderate alcohol intake. Three of them had familial DCM (relatives without alcohol abuse) and 6 had possible familial DCM. CONCLUSIONS: The prevalence of familial DCM is high in patients who undergo heart transplant. Left ventricular enlargement, conduction system abnormalities, and elevated creatine kinase may be early markers of familial disease. Hypertrophic cardiomyopathy is present in some relatives of patients with idiopathic DCM. Familial DCM is present in patients with a previous diagnosis of alcoholic DCM.

Biomarkers↗
PubMed1977

Family studies of lactase deficiency in the American Indian.

To determine the pattern of inheritance of lactase deficiency, we studied 104 American Indian and 2 white subjects in 19 families. Subjects were considered deficient in lactase if breath-hydrogen excretion exceeded 0.20 ml per min above fasting at 2 hr after a lactose load of 2 g per kg of body weight (maximum 50 g). Seventy-one per cent of the males and 75% of the females were lactase deficient. In three families in which both parents were lactase normal, 40% of the children were lactase deficient; and in the three families with one parent lactase normal and the other lactase deficient, 65% of the children were deficient in lactase; and finally, in the seven families with both parents lactase deficient, 93% of the children were lactase deficient. This distribution of lactase deficiency in the families suggests that this trait shows an autosomal-recessive pattern of inheritance.

Adolescent↗
PubMed1995

Familial cerebral aneurysms: a study of 13 families.

Despite the recent interest in familial cerebral aneurysms, the epidemiology, natural history, pattern of inheritance, screening of asymptomatic relatives, and the search for a biochemical marker remain problematic. To assess these issues, we report the results of our prospective study of 30 patients with 38 aneurysms (27 ruptured) and of the angiographic screening of asymptomatic relatives, all from 13 families seen consecutively since 1986. Women were over-represented (77%), and patients with multiple aneurysms (17%) were under-represented, compared with sporadic cases. Only 16% of the aneurysms were at the anterior communicating artery. Aneurysms occurred at the same or at the mirror site in 10 of 16 siblings (62%) and in 50% of mother-daughter pairs versus 20% for randomly selected, sporadic aneurysm patients. Rupture occurred in the same decade in 10 of 12 siblings (83%) versus the expected 21% for randomly selected, sporadic aneurysms. The average age at rupture was 47.2 years, and 60% of patients with a ruptured aneurysm were 50 years of age or younger. Seventy percent of patients died or were disabled from aneurysmal rupture. Screening of 41 individuals, including 2 dizygous twins, identified 1 aneurysm and 2 infundibula. A specific pattern of inheritance could not be ascertained from the pedigrees. The presence of an aneurysm was not associated with a specific human leukocyte antigen haplotype or antigen, and collagen Type III was qualitatively and quantitatively normal. Until a biological marker is identified, angiographic screening by intra-arterial digital subtraction or magnetic resonance angiography remains the only way to identify patients at risk of harboring a familial cerebral aneurysm.

Adult↗
PubMed1999

Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families.

BACKGROUND: Genetic heterogeneity is a well-known feature of Alport syndrome (AS). Most families with AS show an X-linked dominant pattern of inheritance but about 15% of families show an autosomal inheritance of the disease. Autosomal recessive AS may account for 10% of the total number of cases and is caused by mutations in the COL4A3 and COL4A4 genes. The clinical spectrum of this rare disorder has not been well clarified. METHODS: We present two families with AS. Two affected members of these families have entered end-stage renal disease (ESRD) in their 30s, and the other three are older than 15 years and have normal serum creatinine. Four of the five patients have deafness but none have ocular abnormalities. Two have been transplanted and have not suffered from anti-GBM antibody nephritis. Men and women are equally affected. We have performed linkage analysis for chromosome 2 with the following markers: D2S279, COL4A3/4 DNTR, COL4A4 RFLP Hae III. RESULTS: We demonstrate that both families, one of them consanguineous, are linked to the COL4A3/4 locus. CONCLUSIONS: We can conclude that the only significant difference between the X-linked and the autosomal recessive forms of AS lies in the fact that in the latter females are as affected as males; thus the idea that autosomal recessive AS causes ESRD during childhood must be discarded. Other clinical features such as age of deafness or the presence of post-transplant anti-GBM antibody nephritis show no differences between the entities. Thus an accurate familial study is mandatory in patients with AS, as the identification of the different patterns of inheritance may cause a great difference in genetic counselling. Linkage analysis is the only effective molecular diagnosis that can be performed nowadays.

Adolescent↗
PubMed1980

The inheritance of digital dermatoglyphic patterns in 54 American Caucasian families.

We searched for single gene effects in determining digital patterns and compared with the evidence for monogenic determination in Israelis (Slatis et al., '76). Our subjects were 108 parents from central Louisiana and 123 of their offspring; there were 127 females and 104 males ranging in age from eight to 66 years. Arches on the thumb--Among 11 subjects, two were bilateral, and three pairs were related, two as parent-child and one as sib-sib; the findings support the concept of an incompletely penetrant dominant gene. Radial loops on the thumb--three occurred unilaterally in unrelated subjects. Ulnar loops (U) and whorls (W) on the thumb--Phenotype frequency was 104 UU, 65 UW, 47 WW, 15 other. The proportion of UU offspring was highest with both UU parents and diminished as the parents had increasingly more W, supporting the single locus hypothesis. Arches (A) on the fingers--71 A, 160 non-A showed a greater A frequency than in the Israelis. The proportion of A offspring was highest with both A parents and diminished as the parents became non-A. Sequence WWUWW--Among nine subjects, one was bilateral, two left, and six right; two pairs related as parent-child and sib-sib. Sequence WUUWW--Among five subjects, one was bilateral, and three were related as parent-offspring. Radial loops on index fingers--Frequency of 32% was greater than in the Israelis. Middle fingers--86% were U, 73% being bilateral. Radial loops on ring and little fingers--Among eight unilateral subjects, none was related. Ulnar loops and whorls on ring fingers--Proportion of UU offspring was greatest with both UU parents and diminished as parents became WW. We conclude that the Louisianians showed evidence for single gene effects similar to that of the Israelis.

Adolescent↗
PubMed1975

Inheritance of acrocentric association patterns.

The individual association frequencies of acrocentric chromosomes identified by fluorescent markers were analyzed in 17 individuals from 3 families. The frequency of association appears to be a characteristic property of an individual chromosome, since certain marker chromosomes showed an increase in frequency of association in each family member in which they appeared. Most of the marker chromosomes with increased frequency of association had a longer nucleolar constriction than their homologs.

Cell Division↗
PubMed2005

Enhancement of resistance to aphids by introducing the snowdrop lectin gene gna into maize plants.

In order to enhance the resistance to pests, transgenic maize (Zea mays L.) plants from elite inbred lines containing the gene encoding snowdrop lectin (Galanthus nivalis L. agglutinin; GNA) under control of a phloem-specific promoter were generated through the Agrobacterium tumefaciens-mediated method. The toxicity of GNA-expressing plants to aphids has also been studied. The independently derived plants were subjected to molecular analyses. Polymerase chain reaction (PCR) and Southern blot analyses confirmed that the gna gene was integrated into maize genome and inherited to the following generations. The typical Mendelian patterns of inheritance occurred in most cases. The level of GNA expression at 0.13%-0.28% of total soluble protein was observed in different transgenic plants. The progeny of nine GNA-expressing independent transformants that were derived separately from the elite inbred lines DH4866, DH9942, and 8902, were selected for examination of resistance to aphids. These plants synthesized GNA at levels above 0.22% total soluble protein, and enhanced resistance to aphids was demonstrated by exposing the plants to corn leaf aphid (Rhopalosiphum maidis Fitch) under greenhouse conditions. The nymph production was significantly reduced by 46.9% on GNA-expressing plants. Field evaluation of the transgenic plants supported the results from the inoculation trial. After a series of artificial self-crosses, some homozygous transgenic maize lines expressing GNA were obtained. In the present study, we have obtained new insect-resistant maize material for further breeding work.

Agrobacterium tumefaciens↗
PubMed1986

Genetics of schizophrenia: I. Familial patterns and mode of inheritance.

The purpose of this article is to review and condense the available literature on genetic modeling in schizophrenia research. The principles underlying genetic models and the various applications of these models to family data are reviewed. It is concluded that despite the advances in statistical genetics, the mode of inheritance of schizophrenia remains elusive. The conflicting results are attributed to variation in methods for data collection and analysis and to the heterogeneous nature of the disorder. The possibility is also raised that most previous genetic analyses of schizophrenia may have been compromised by methodological drawbacks. Although the use of advanced genetic models in conjunction with adequate data may shed more light on the genetic contribution to schizophrenia, the limitations of this approach in genetically heterogeneous disorders must be recognized. Alternative methods, such as studies with biological susceptibility traits and genetic markers, may be more useful in unraveling the specific genetic components that underlie the transmission of schizophrenia.

Genetic Counseling↗
PubMed2000

Evidence of sex-linked effects on the inheritance of human longevity: a population-based study in the Valserine valley (French Jura), 18-20th centuries.

A long-standing puzzle in gerontology is the sex dependence of human longevity and its inheritance. We have analysed the sex-linked pattern of inheritance of longevity from 643 nuclear families on the historical population register of a French valley. We have focused on mean conditional life expectancy at a minimum age of 50 years, thus, in the present study, longevity refers to late or post-reproductive survival. A comparison of parents' and offspring's longevity has shown the existence of a heritable component of late survival in this population. We have found that the heritable component was substantially larger for daughters compared to sons. Moreover, this result appeared to be specific to late survival, that is, when only post-reproductive mortality for parental and offspring generations is taken into account. The stronger resemblance of parents to their daughters was no longer observed when considering younger ages at death for the offspring. This observation explains the hitherto unaccountable diversity of data in previous studies.

Female↗
PubMed1991

The inheritance of alcohol consumption patterns in a general population twin sample: II. Determinants of consumption frequency and quantity consumed.

Genetic models were fitted to self-report data on frequency of alcohol consumption and average quantity consumed when drinking, from 3,810 adult Australian twin pairs. Frequency of consumption is determined both by an abstinence dimension, which is strongly influenced by shared environmental effects but not by genetic effects, and by an independent frequency dimension, which is influenced by genetic effects in both sexes and possibly by shared environmental affects in men. Quantity of alcohol consumed is likewise determined by an environmental abstinence dimension and by an independent and partly heritable quantity dimension. The best-fitting model allowed for two routes to abstinence: those who were not abstainers by virtue of their position on the abstinence dimension could nonetheless become abstainers by their position on the second, frequency (or quantity) dimension. Heritability estimates were 66% in women and 42-75% in men, for frequency; and 57% in women and 24-61% in men, for quantity.

Adult↗
PubMed2004

Haplotype parsing: methods for extracting information from human genetic variations.

While the shared consensus genetic sequence of our species contains a great deal of information about our common biology, there is also much to be learned from the subtle genetic variations across our species. These variations are believed to be generally of little or no direct functional significance and predominantly reflect the chance accumulation of small genetic changes since our emergence as a species. Therefore, they carry little useful information when observed in a single individual. When tallied across a whole population though, these chance mutations can teach us a great deal about our evolutionary history and the patterns of inheritance in particular individuals. In particular, frequently observed patterns of single nucleotide polymorphisms (SNPs) in a population can identify segments of chromosome that have been passed down largely intact through long stretches of our evolution. Finding these frequently conserved chromosomal segments, or haplotypes, and developing methods to identify haplotype patterns in particular individuals, will in turn help us to identify those particular segments that carry genetic factors influencing risk for many common human diseases. To make the best use of this data, we will need to develop new models for the encoding of information in genome variations--the "language of genetic variation"--and new algorithms for fitting datasets to those models. This article surveys past work by the author and colleagues on this problem, utilising computational methods for locating frequent patterns in haploid sequence data, and "parsing" sequences so as to optimally explain them given the knowledge of the general population structure. The author's recent work in this area has been compiled into a set of computational tools available at http://www-2.cs.cmu.edu/~russells/software/hapmotif.html.

Algorithms↗