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PubMed1990

Variation and inheritance of cytosine methylation patterns in wheat at the high molecular weight glutenin and ribosomal RNA gene loci.

Chromosome marking by cytosine methylation has been examined in two gene systems in wheat--at the loci encoding high molecular weight (HMW) glutenin subunits (seed proteins) and ribosomal RNA. Variation in cytosine methylation occurs between progeny in highly inbred lines around the HMW glutenin locus. The variation is inherited through meiosis to F1 and F2 generations but occasionally a new variant arises. Specific cytosine residues lose their methyl group in the seed, the organ where the genes are expressed. Within the multigene family of ribosomal RNA genes, several subsets of genes can be defined based upon the cytosine methylation patterns. High activity of a ribosomal RNA gene locus is correlated with loss of methylation at specific cytosine residues, especially in the promoter and upstream regulatory regions. A model is described in which the subset of genes selected to be used are those to which specific regulatory proteins and transcription complexes bind most favourably. Binding of such proteins inhibits cytosine methylation and so marks the subset of genes for expression in subsequent cell generations. Examples are described where new types of RNA genes are introduced via sexual crosses that result in changes to the methylation patterns of the ribosomal RNA genes. The processes determining the changes begin, it is believed, in the fertilised egg.

Cytosine↗
PubMed1993

Epistatic modeling in rheumatoid arthritis: an application of the Risch theory.

Rheumatoid arthritis (RA) is a disease of unknown etiology but with a presumed complex pattern of inheritance. Risch [Am J Hum Genet 46:222-228, 1990] has shown that the recurrence risk ratio, lambda R, (which is defined as the risk to type R relatives vs. the population prevalence) can be used to evaluate patterns of inheritance in genetically complex diseases. We have used the Risch theory to examine some multiple locus models of inheritance in RA. Recurrence risk ratios in MZ twins and in 1st, 2nd, and 3rd degree relatives are summarized from the literature. The limited data available supports at least a two-locus model of inheritance for RA (assuming that one locus is HLA). Better estimates of the recurrence risk ratios in RA families are required so that the Risch theory can be pursued further.

Adult↗
PubMed2005

Clinical profile of migraineurs in a referral centre in India.

BACKGROUND: Migraine is one of the commonest of headache disorders presenting to neurologists the world over. Though the precise etiopathogenesis of migraine is still not completely understood, there are various studies speculating on the role of different genetic loci and various patterns of inheritance. OBJECTIVE: The present study was conducted to characterize the migraineurs presenting to a referral hospital in India and understand their possible modes of inheritance by clinical evaluation of family pedigree. METHODS: A questionnaire based, prospective study including consecutive patients was conducted in the department of Neurology at a tertiary referral center in India. All patients fulfilling the diagnostic criteria for migraine were enrolled and their characteristics noted. Other family members of those with a positive history of headache were also interviewed. RESULTS: A total of 198 migraineurs were interviewed from March 2001 to July 2002. The proportion of female migraineurs was higher, comprising 72% of the study group, with an average age of onset of symptoms of 23.3 years. The characteristics of migraine noted revealed certain rare factors aggravating headache. A positive family history of headache was observed in 24.7% of probands with a possible maternal inheritance on clinical grounds in 29 of 41 families (70.7%). CONCLUSIONS: This is an observational study from an Indian centre on the clinical characteristics of migraineurs in India. It revealed that migraineurs presented a relatively low frequency of family history of headache. Though a definite pattern of inheritance can't be commented on, majority with a positive family history of headache had a trend to possible maternal inheritance.

Adult↗
PubMed2003

Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

BACKGROUND: Alport's syndrome (AS) is a genetically heterogeneous renal hereditary disease. Mutations in collagen type IV genes have been described to be responsible for X-linked (COL4A5), autosomal recessive, and autosomal dominant AS (COL4A3/COL4A4). Moreover, at least 40% of benign familial hematuria (BFH) cases cosegregate with the COL4A3/COL4A4 loci, following a dominant pattern of inheritance. Therefore, it has been suggested that BFH may represent the carrier state for autosomal recessive AS. METHODS: We report a mutational study of the COL4A3 and COL4A4 genes in 14 AS and 2 BFH families. When possible, linkage analysis has been performed to confirm the pattern of inheritance. One affected proband from each family underwent mutation screening by single-strand conformation polymorphism/heteroduplex analysis. RESULTS: We identified 13 mutations within the COL4A3 gene and 2 mutations within the COL4A4 gene, 9 of which are first reported here. We also detected 14 polymorphisms within the COL4A3 gene and 15 polymorphisms within the COL4A4 gene, 7 of them not previously described. In 2 of our AS families, we found mutations previously reported for BFH, and we characterized a novel mutation shared by an AS and a BFH family. CONCLUSION: Collagen type IV nephropathy is an entity in itself, and phenotypic manifestations of COL4A3/COL4A4 mutations may range from monosymptomatic hematuria (BFH) to severe renal failure (AS), depending on the gene dosage. In 3 of our families, we genetically confirmed that BFH represents the carrier state for autosomal recessive AS.

Adolescent↗
PubMed1982

Genetic control of C6 polymorphism and C6 deficiency in rabbits.

The genetic control of the sixth component of complement (C6) in rabbits has been studied by quantitation of C6 functional and antigenic levels and identification of polymorphism by isoelectric focusing (IEF) in gels. Patterns of inheritance of C6 variants in families carrying a silent gene for C6 were examined, and it was found that 3 common plasma phenotypic variants, C6 A, C6 B, and C6 QO were under the genetic control of allelic genes, C6*A, C6*B, and C6*QO. In IEF patterns, C6 A could be identified by its isoelectric point that was slightly more acidic than that of C6 B. C6 QO was undetectable because it lacked functional and antigenic activity. The C6*A/C6*B genotype displayed a mixed IEF pattern with bands characteristic of both C6 A and C6 B. Functional and antigenic levels of C6 that were found in heterozygous C6*A/C6*QO and C6*B/C6*QO rabbits were approximately one-half of the C6 levels found in the corresponding homozygous animals. The phenotypic variation closely resembles that previously observed in humans and rhesus monkeys, as well as preliminary data in rabbits. The patterns of inheritance indicated that the two common C6 structural genes and the deficiency gene were allelic variants at the same genetic locus.

Animals↗
PubMed2006

Hutchinson-Gilford progeria syndrome: review of the phenotype.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise. Cognitive development is normal. Data on 10 of our own cases and 132 cases from literature are presented. The incidence in the last century in the Netherlands was 1:4,000,000. Sex ratio was 1.2:1. Main first symptoms were failure to thrive (55%), hair loss (40%), skin problems (28%), and lipodystrophy (20%). Mean age at diagnosis was 2.9 years. Growth in weight was more disturbed than growth in height, and growth delay started already prenatally. Mean height > 13 years was 109.0 cm, mean weight was 14.5 kg. Osteolysis was wide-spread but not expressed, except in the viscerocranium, and remained limited to membranous formed bone. Lipodystrophy is generalized, only intra-abdominal fat depositions remain present. Cardiovascular problems are extremely variable, both in age of onset and nature. Stroke and coronary dysfunctioning are most frequent. Pathologic findings in coronaries and aorta resemble sometimes the findings in elderly persons, but can also be much more limited. Loss of smooth muscle cells seems the most important finding. Mean age of demise was 12.6 years. Patients can be subdivided in patients with classical HGPS, which follows an autosomal dominant pattern of inheritance, (almost) all cases representing spontaneous mutations, and in non-classical progeria, in whom growth can be less retarded, scalp hair remains present for a longer time, lipodystrophy is more slowly progressive, osteolysis is more expressed except in the face, and survival well into adulthood is not uncommon. Pattern of inheritance of non-classical progeria is most probably autosomal recessive. The cause of HGPS is an abnormally formed Lamin A, either directly by a mutated LMNA gene, or through abnormal posttranslational processing (ZMPSTE24 gene mutations). Of 34 LMNA mutations found in progeria patients, there were 26 classical p.G608G mutations (76%). Pathogenesis is most likely to follow several different pathways. Potential therapeutic strategies are developed along these lines and include RNA interference techniques and inhibition of the dominant-negative influence of abnormally formed Lamin A on polymerization with normally formed Lamin A.

Abnormalities, Multiple↗
PubMed2001

Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.

The fragile X (FRAXA) syndrome is the most common form of inherited mental retardation in males. Its peculiar pattern of inheritance results from the parent of origin-specific expansion of a CGG-repeat within the FMR1 gene on the X chromosome. In patients, gene function is abolished by hypermethylation of the promoter and the massively expanded repeat. We have developed a methylation-sensitive polymerase chain reaction (MS-PCR) strategy that combines repeat-length and methylation analysis of the CGG-repeat and the promoters of the FMR1 and XIST genes. The allelic methylation of the latter opposes that of the FMR promoter and serves as an internal control and standard for semiquantitative analyses. This system enables the delineation of 11 distinct patterns encountered in nonaffected, carrier, and affected males and females. We have evaluated our system on well-defined samples with different FMR1 mutations and have used it for the diagnostic evaluation of 253 male and 80 female probands. In the male group, we have identified five full mutations, and three gray-zone and premutation alleles with 54, 55, and 62 repeats, respectively. The female group consists of 33 normal homozygote and 41 heterozygote individuals, two of whom harbor a gray-zone allele with 47 repeats, none with a premutation, and six with a full mutation. Our MS-PCR approach allows the currently most comprehensive diagnostic evaluation of the FRAXA syndrome in a cost- and time-efficient fashion. In addition, it is a valuable tool for the analysis of clonality and skewing phenomena in females.

Alleles↗
PubMed1987

Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families.

To determine the mode of inheritance of hypertrophic cardiomyopathy 193 first degree relatives (parents, siblings, and offspring) of 50 patients with hypertrophic cardiomyopathy were assessed by clinical examination, electrocardiography, M mode and cross sectional echocardiography, and necropsy when available. Thirty nine (20%) first degree relatives had hypertrophic cardiomyopathy--37% of parents, 25% of siblings, and 8% of offspring. Eight (23%) of 35 affected relatives diagnosed by echocardiography had normal clinical and electrocardiographic findings. In the total study group 43% of the male population and 30% of the female population were affected. This difference is statistically significant. In 28/50 families there was familial occurrence of hypertrophic cardiomyopathy. Familial occurrence was demonstrated in 17 of 18 families in which five or more family members were assessed. In 15 families the pattern of inheritance was consistent with an autosomal dominant trait; in the other 13 the affected members were identified in a single generation and the pattern of inheritance could not be determined.

Adolescent↗
PubMed1995

Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of cryptophthalmos is described. METHODS: The medical literature since the original description of cryptophthalmos in 1872 was reviewed to define patterns of inheritance and the incidence of associated anomalies. RESULTS: Including this patient, 149 case reports of cryptophthalmos were identified. In two families transmission from parent to child suggests dominant inheritance. None of the five dominant cases had any other anomalies, and all had bilateral complete cryptophthalmos. The incidence of cryptophthalmos in the remaining families is consistent with autosomal recessive inheritance. This group includes patients with bilateral, unilateral, and partial cryptophthalmos. Other anomalies are common, including those of the ear and nose, limbs, genitourinary system, and mouth and palate. Mortality in the perinatal period is associated with renal agenesis, laryngeal atresia, and pulmonary hypoplasia. CONCLUSIONS: Cryptophthalmos is a rare congenital anomaly with two patterns of inheritance.

Abnormalities, Multiple↗
PubMed2002

An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

We describe the clinical, genetic, biochemical, and molecular characterization of a mouse that arose in the first generation (G(1)) of a random mutagenesis screen with the chemical mutagen ethyl-nitrosourea. The mouse was observed to have skeletal abnormalities inherited with an X-linked dominant pattern of inheritance. The causative mutation, named Skeletal abnormality 1 (Ska1), was shown to be a single base pair mutation in a splice donor site immediately following exon 8 of the Phex (phosphate-regulating gene with homologies to endopeptidases located on the X-chromosome) gene. This point mutation caused skipping of exon 8 from Phex mRNA, hypophosphatemia, and features of rickets. This experimentally induced phenotype mirrors the human condition X-linked hypophosphatemia; directly confirms the role of Phex in phosphate homeostasis, normal skeletal development, and rickets; and illustrates the power of mutagenesis in exploring animal models of human disease.

Alleles↗
PubMed2003

New phenotype of familial dilated cardiomyopathy and conduction disorders.

BACKGROUND: Familial dilated cardiomyopathy (FDCM) is attributed to defects in cytoskeletal proteins, and different patterns of inheritance and phenotypic expressions according to assorted-protein modifications have been identified to date. We describe a clinical family study with 24 individuals in 3 generations affected by dilated cardiomyopathy (DCM) and cardiac conduction abnormalities. METHODS AND RESULTS: After a follow-up period of 25 +/- 14 months, DCM developed in 7 male adults, 6 with associated arterioventricular block (AVB); and 10 female and 7 male adults had several degrees of isolated AVB. This particular clinical expression, with a strong predominance of dilation of the heart developing in the male population and the vertical distribution of patients affected with AVB, is consistent with autosomal dominant inheritance involving both cardiac abnormalities. CONCLUSIONS: The presence of isolated AVB or that associated with DCM in a large number of individuals in the same family, in which members of the male sex seems to be predominantly affected by cardiac dilatation, differs from other FDCMs that have been described previously. This FDCM has an autosomal dominant pattern of inheritance with variable phenotypic expressivity, in which AVB may constitute in itself the only manifestation of this entity. To date, we have been unable to identify the mechanism of inheritance, and we advance some theoretical considerations about possible mechanisms.

Adolescent↗
PubMed1987

Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family.

The T4-binding proteins of a euthyroid subject with persistent hyperthyroxinemia (T4, greater than 20 micrograms/dl) were present in normal concentrations. Abnormal transport of both T4 and rT3 was demonstrated by reverse flow paper electrophoresis; excess T4 was bound to albumin and prealbumin, while increased binding of rT3 was confined to prealbumin. The three T4-binding proteins in the serum of the subject were isolated by affinity chromatography and characterized. Equilibrium dialysis experiments demonstrated a 20-fold increase in affinity of the albumin for T4 (Ka, 5.1 X 10(6) M-1) and a 4-fold increase in affinity of prealbumin for T4 (Ka, 3.0 X 10(8) M-1); T4-binding globulin affinity was normal. Nine other members of the family were also studied. Two sisters of the propositus have both the abnormal albumin and the variant prealbumin, while a brother has normal T4-binding proteins. The mother has the abnormal albumin alone. The father, his sister, and one of his three brothers have the variant prealbumin only. Despite the presence of the variant prealbumin in some of the paternal relatives of the propositus, their total iodothyronine concentrations were within the normal ranges; the condition may, therefore, often go undetected. The characteristics of the albumin found in the affected members of this kindred are those we have defined for familial dysalbuminemic hyperthyroxinemia type I, which is inherited as an autosomal dominant trait. The pattern of inheritance of the variant prealbumin is also consistent with a dominant mode with strong penetrance. The presence of two separately inherited abnormal T4 transport proteins in the same family suggests that both conditions may be more common than has been thought.

Adolescent↗
PubMed2004

Molecular diagnostics of acute intermittent porphyria.

Acute intermittent porphyria (AIP) is an inherited metabolic disease with an autosomal dominant pattern of inheritance. The disease is caused by a partial deficiency of porphobilinogen deaminase (PBGD) in heme biosynthesis. Since biochemical measurements of patients and their healthy relatives overlap, the diagnosis of AIP may remain undetermined at the symptom-free phase. Mutation detection in AIP, which provides 95% sensitivity and around 100% specificity, has quickly been incorporated into good clinical practice. During an acute attack, which includes various neurovisceral symptoms, measurement of urinary porphobilinogen (PBG) is a method of choice to confirm diagnosis, and DNA testing is unnecessary at that stage. DNA testing has revealed many new patients and excluded AIP from many healthy relatives despite slightly increased excretions of porphyrin precursors and erythrocyte PBGD in the low or borderline zone. Thus, quality-assured DNA testing is accurate enough to confirm or exclude the diagnosis of AIP. The clinical utility of DNA testing is limited for those individuals whose mutation is currently unknown, in which biochemical analyses are essential and the majority of the patients can be identified using urinary PBG and erythrocyte PBGD measurements. The measurement of urinary PBG can be used to evaluate the prognosis for symptom-free individuals. Currently, DNA testing of AIP at the population level is not recommended unless the frequency of gene carriers is locally very high and large-scale population-based mutation screening is reasonable. In the future, the knowledge of gene-gene and gene-environment interactions and protein networks using gene array and proteomics technologies may provide more precise information about pathogenetic mechanisms and novel therapeutic strategies for an acute attack and the long-term complications of AIP. Increasing knowledge of pharmacogenetics may identify the patients who are at high risk for clinical manifestations.

Genetic Testing↗
PubMedDate not supplied

[Genetic aspects of asthma].

Asthma is a complex disease associated with bronchial hyperreactivity and atopy, making asthma a disease with a phenotype that has been clinically difficult to define. Despite intense research, prevalence of asthma remain relatively high. The key reason for the high prevalence and morbility is that the fundamental mechanisms predisposing individuals to the development of asthma are not understood. Familial aggregation observed in this pathology has prompted for the search of an involved genetic component. This task is difficult due to the complex nature of asthma. A universally accepted definition for this disease is not available, clinical expression can be modulated by environmental factors, and inheritance does not follow a clear Mendelian pattern. Establishment of more precise clinical and laboratory criteria has improved the design and interpretation of genetic studies. Twin analysis and segregation studies have demonstrated an important genetic component with a probably multifactorial pattern of inheritance. "Sib pair" studies and familial segregation analyses have shown linkage between some chromosomal regions and asthma, including chromosome 5, 6, 7, 11 and 14. The search for major genes in these chromosomal segments has been focused on loci involved in the allergic process. Among these, the loci for IL-9 and IL-13 in chromosome 5 seem to play an important role in the pathogenesis of asthma. Understanding the fundamental gene-environmental interactions in the development of asthma should lead to earlier identification of susceptible individuals and more effective approaches for disease prevention.

Adult↗
PubMed2000

The genetics of Alzheimer disease.

Alzheimer disease (AD) is the most common cause of dementia in late life. AD has been described as early onset, occurring at or younger than age 50, or late onset, occurring at or older than age 70. Although AD is a genetically heterogeneous disorder, it is classified as familial or sporadic. Cases in which a clear pattern of inheritance within a family is established are termed familial Alzheimer disease (FAD). Sporadic, however, is problematic when studying a late onset disease such as AD. It is likely that people who may carry a mutation die of another cause before reaching the age of risk. This article describes the known genetic mutations resulting in an autosomal dominant pattern of inheritance in early onset AD and a polymorphism associated with the more common late onset disorder.

Adult↗
PubMed1998

Higher risk for renal failure in first-degree relatives of white patients with end-stage renal disease: a population-based study.

To explore the possibility that hereditary factors increase the risk for end-stage renal disease (ESRD), 669 patients with ESRD in the province of Newfoundland, Canada from 1987 to 1993 were studied. Detailed family histories were obtained from 584 (87%) consecutive probands and 499 spousal control subjects. Diseases with a Mendelian pattern of inheritance accounted for 8.4% of the cases; 4.5% of the cases were caused by autosomal dominant polycystic kidney disease (ADPKD). Glomerulonephritis was the original cause of renal failure in 25% of the probands, diabetes mellitus (DM) in 20%, unknown in 14%, interstitial kidney disease in 11%, other disease in 12%, multifactorial in 4%, and hypertension in 5%. In the group without a Mendelian pattern of inheritance, 28% of the probands had a first-, second-, or third-degree relative with renal failure associated with death or dialysis versus 15% of the controls. Compared with 0.4% of the control group, 1.2% of the first-degree relatives of probands developed renal failure (odds ratio [OR]=3.0; 95% confidence interval [CI], 1.7 to 5.2). No difference was observed when risks were compared for second-degree relatives, but a highly significant increased risk was observed for third-degree relatives (OR=2.1; 95% CI, 1.2 to 3.4). The highest rates of affected first-degree relatives occurred in probands with hypertensive renal failure (2.3%), DM (1.6%), and interstitial kidney disease (1.6%). The annual provincial incidence of ESRD, registered with the Canadian Organ Replacement Registry (CORR) from 1981 to 1993 was 79 per million, excluding the 8% of patients with Mendelian inherited disease. The similar rate of ESRD in first-degree relatives of probands without Mendelian inherited disease was 297 per million. We conclude that not only is the contribution of Mendelian inherited diseases to ESRD high, but there is also an increased risk for renal failure in first-degree relatives of probands without a Mendelian inherited renal disease in a white population.

Case-Control Studies↗
PubMed2006

Inheritance of gynandromorphism in the parasitic wasp Nasonia vitripennis.

The parasitic wasp Nasonia vitripennis has haplo-diploid sex determination. Males develop from unfertilized eggs and are haploid, whereas females develop from fertilized eggs and are diploid. Females and males can be easily distinguished by their morphology. A strain that produces individuals with both male and female features (gynandromorphs) is studied. We provide data on female/male patterning within and between individuals, on environmental effects influencing the occurrence of gynandromorphism, and on its pattern of inheritance. A clear anterior/posterior pattern of feminization is evident in gynandromorphic individuals that developed from unfertilized haploid eggs. The proportion of gynandromorphic individuals can be increased by exposing the mothers to high temperature and also by exposing embryos at early stages of development. Selection for increased gynandromorph frequency was successful. Backcross and introgression experiments showed that a combination of a nuclear and a heritable cytoplasmic component causes gynandromorphism. Analyses of reciprocal F(2) and F(3) progeny indicate a maternal effect locus (gyn1) that maps to chromosome IV. Coupled with previous studies, our results are consistent with a N. vitripennis sex determination involving a maternal/zygotic balance system and/or maternal imprinting. Genetics and temperature effects suggest a temperature-sensitive mutation of a maternally produced masculinizing product that acts during a critical period in early embryogenesis.

Analysis of Variance↗
PubMed2002

Ooplasm donation in humans: the need to investigate the transmission of mitochondrial DNA following cytoplasmic transfer.

The use of cytoplasmic transfer as an assisted reproductive technique has generated much attention. This arises as donor mitochondria are introduced into the cytoplasm of the recipient oocyte. The consequences are the possible transmission of two mitochondrial (mt)DNA populations to the offspring. This pattern of inheritance is in contrast to the strictly maternal manner in which mtDNA is transmitted following natural fertilization and ICSI. This paper discusses the advantages of using such a technique to enhance embryonic development from poor quality oocytes with respect to the low copy number of mtDNA found in some oocytes following superovulation protocols. However, it also cautions against using such a technique before a clearer understanding of the patterns of inheritance and transmission of mtDNA has been established and suggests that animal models be utilised to do so.

Animals↗