Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Inheritance”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 847 records · Page 47Linked to original sources
PubMed1972

Inheritance of DDT resistance in species A and B of the Anopheles gambiae complex.

It has been reported that Anopheles gambiae species A is resistant to DDT in Upper Volta and Togo, and DDT resistance has been found in a Sudan strain of species B. The species A strain from Upper Volta was more resistant to DDT than the Togo strain, while the Sudan strain of species B was the least resistant. The expression of resistance is genetically determined, and studies on the mode of inheritance have shown that resistance is inherited as a single dominant gene in the Togo strain of species A and the Sudan strain of species B, but that it is inherited as a single incompletely dominant gene in the Upper Volta strain of species A.

Animals↗
PubMed1981

The modes of inheritance of insulin-dependent diabetes mellitus or the genetics of IDDM, no longer a nightmare but still a headache.

The discovery of HLA antigen associations with juvenile-type insulin-dependent diabetes mellitus (IDDM) provided strong evidence separating this disorder, or group of disorders, from maturity-type noninsulin-dependent diabetes, as well as adding to the evidence for an immunologic pathogenesis. In addition, it was hoped that the use of these disease-marker associations in appropriate studies might clarify the genetics of IDDM. While these associations have provided a useful tool to further investigate the genetics and pathogenesis of IDDM, the mode or modes of inheritance of this group of disorders remain an area of great controversy. Susceptibility to IDDM is currently being proposed as being inherited as a single autosomal dominant, as a single autosomal recessive, as recessive and some dominant forms, in an intermediate gene dosage model, in a heterogeneous three-allele or two HLA loci model, and as a two-locus disorder. The arguments for each of these proposals is presented, as well as the problems of each. We surmise that the weight of evidence supports the heterogeneity hypothesis but that the modes of inheritance of IDDM will be fully resolved only when we can more reliably identify the diabetogenic genotype, rather than being limited in our investigations to the study of only full-blown clinical disease.

Chromosome Mapping↗
PubMed1981

Inheritance of mixed cryoglobulinemia.

This paper describes a family in which 10 members of 3 generations have IgM-IgG cryoglobulinemia. Their pedigree is characteristic of autosomal dominant inheritance. No underlying disease that could account for the cryoglobulinemia has been identified in any patient, and no linkage of the cryoglobulinemia to HLA-A and -B locus haplotypes, blood group antigens, or immunoglobulin Gm allotypes has been detected. The rheumatoid factors of this kindred react with some, but not all, human IgG; however, their rheumatoid factors are not antibodies to any known human Gm or Km allotype. This family demonstrates that "essential" mixed cryoglobulinemia can be inherited, and that the clinical manifestations of an inherited cryoglobulinemia may vary among family members.

ABO Blood-Group System↗
PubMed1981

Ovalocytosis in Papua New Guinea -- dominantly inherited resistance to malaria.

Analysis of ovalocytosis in families has demonstrated dominant inheritance. This conclusion is based on finding ovalocytic children of ovalocytic Melanesian mothers and normocytic Caucasian fathers. Inheritance of resistance to thermal deformation and to crenation upon storage correlated with inheritance of ovalocytic erythrocyte morphology. The latter was associated with in vitro resistance to invasion by P. falciparum.

Elliptocytosis, Hereditary↗
PubMed1995

Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

Juvenile megaloblastic anemia caused by selective intestinal malabsorption of vitamin B12 has been considered a distinct condition displaying autosomal recessive inheritance. It appears to have a worldwide distribution, and comparatively high incidences were reported 30 years ago in Finland and Norway. More recently, the Mendelian inheritance of the condition has been questioned because almost no new cases have occurred in these populations. Here we report linkage studies assigning a recessive-gene locus for the disease to chromosome 10 in previously diagnosed multiplex families from Finland and Norway, proving the Mendelian mode of inheritance. The locus is tentatively assigned to the 6-cM interval between markers D10S548 and D10S466, with a multipoint maximum lod score (Zmax) of 5.36 near marker D10S1477. By haplotype analysis, the healthy sibs in these families did not appear to constitute any examples of nonpenetrance. We hypothesize that the paucity of new cases in these populations is due either to a dietary effect on the gene penetrance that has changed with time, or to a drop in the birth rate in subpopulations showing enrichment of the mutation, or to both of these causes.

Adolescent↗
PubMed1995

Evaluation of long-term results of Caroli's disease: 21 years' observation of a family with autosomal "dominant" inheritance, and review of the literature.

A 5-year-old girl underwent laparotomy in 1972 because of hepatomegaly and mottled radiopacities shown by cholangiography. Polycystic segmental dilatation of the intrahepatic bile ducts, typical of Caroli's disease, was found. Thereafter she remained in good health for over 21 years with careful medical management. In 1972 mottled radiopacities of the hepatic parenchyma were also demonstrated by cholangiography in her 9-year-old brother, who, however, remained asymptomatic until hematemesis due to esophageal varices suddenly occurred in 1993. At the time of the pre-operative evaluation for esophageal transection, his condition was definitively diagnosed as Caroli's disease. Their father was in good health, but in 1993 was shown by CT to have the same disease. The mode of inheritance is likely to be autosomal dominant, although Caroli's disease or congenital hepatic fibrosis is generally considered autosomal recessive (McKusick number 263200) (1). If we had not examined the father, this particular family would have been accepted as an example of autosomal recessive inheritance. We suggest that further family studies are needed to exclude the autosomal dominant mode of inheritance, and that at least some of the recessive cases in the literature are, in fact, autosomal dominant. Well-documented cases of "classical" Caroli's disease in the literature were reviewed with special reference to the long-term results. In addition, an international questionnaire aimed at establishing the further clinical course of the patient was sent to authors who reported cases after 1968.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1994

Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.

We recently described a case of hereditary complement C3 deficiency (C3D) in a New Zealand male who has a small amount of serum C3 (7 micrograms/ml), a normal size 5.2-kilobase C3 mRNA that is present in normal quantities, and a normal size M(r) 180,000 proC3 molecule that is synthesized in normal amounts. Secretion of C3 from this patient's cells was greatly diminished, however, and an aberrant C3 trypsin cleavage profile indicated an abnormality in the proC3 structure. To determine the primary structure of the C3D proC3 molecule, the corresponding cDNA was cloned and sequenced in the present study, revealing a normal signal peptide, tetraarginine linker, and thiolester domain. One nucleotide substitution in exon 13 (G1705 AC to AAC) was found, however, that resulted in an amino acid change in a highly conserved region of the C3 beta-chain (Asp549 to Asn). This substitution has not been described in any individual with either C3 Fast or C3 Slow phenotypes. Immunoprecipitation of C3 from L-cells transfected with full-length normal and C3D cDNAs demonstrated that C3 was secreted by the cells transfected with the normal C3 cDNA; however, only a C3 precursor was detected in the intracellular compartment of the cells transfected with the C3D cDNA and none detected extracellularly. Immunofluorescence studies revealed a perinuclear localization of C3 in the C3D transfectants, arrested early in the secretory pathway. Allele-specific polymerase chain reaction analysis demonstrated that this New Zealand family is a compound heterozygous C3D kindred, with the Asn549 point mutation being inherited from the mother and a yet undescribed C3 defect being inherited from the father. Taken together, these data indicate that 1) C3 deficiency is caused in a New Zealand kindred by two distinct molecular genetic mutations, one being an amino acid substitution in a highly conserved region of the beta-chain that results in impaired C3 secretion, and 2) the molecular basis of this deficiency has not been described in any other C3-deficient individual, providing additional evidence that multiple defects cause inherited C3 deficiency in humans.

Alleles↗
PubMed1994

[Inherited thrombophilia].

The prevalence of inherited thrombophilia in the general population (1 in 2,500) is higher than that of hemophilia and related bleeding disorders. Well established causes of thrombophilia include deficiencies of natural coagulation inhibitors: antithrombin III, protein C and protein S. It is likely that other inherited disorders, such as deficiency of the second cofactor for activated protein C, deficiency of heparin cofactor II, hypo- and dysplasminogenemias, dysfibrinogenemias and homocysteinemia, may predispose to thrombosis. This review discusses clinical and laboratory aspects of these disorders and summarizes the management of individuals with inherited thrombophilia.

Anticoagulants↗
PubMed1993

Cytoplasmic inheritance and its effects on development and performance.

In contrast to nuclear inheritance, cytoplasmic inheritance in mammals is derived mostly, if not exclusively, from the maternal line. Mitochondria, and their DNA molecules (mtDNA), are the genetic units of this method of inheritance. Mammalian mtDNA codes for 13 enzymes used in the mitochondrial energy-generating pathway, oxidative phosphorylation, 22 tRNAs and two rRNAs. Although all transcripts of mtDNA and their translational products remain in the mitochondria, most proteins used in mitochondria are from nuclear DNA and are imported after synthesis on cytoplasmic ribosomes. Spermatozoa introduce a small number of mitochondria into the cytoplasm of the egg at fertilization, which appear to be digested soon after penetration. Although the paternal contribution of mtDNA to the offspring is not believed to occur in mammals, some interspecific crosses have suggested that it does occur. Experiments with animals derived from reconstituted embryos, using nuclear or cytoplasmic transplantations, suggest that nuclear-mitochondrial interactions are important but not essential in the survival and replication of exogenous mitochondria introduced into the egg. As the levels of heteroplasmy varied in several tissues of animals derived from reconstituted embryos, it is suggested that differential partitioning of mitochondria occurs during embryogenesis. Mitochondrial morphology changes substantially during oogenesis and throughout early cleavage stages. Somatic morphology and normal replication patterns are regained at the blastocyst stage. In pig oocytes and embryos, mitochondria aggregate and are closely associated with endoplasmic reticulum, lipid granules and large vesicles. Although the direct correlation of mitochondrial genes with reproductive traits is still unclear, some human degenerative diseases and performance traits in cattle can be related directly to specific mtDNA polymorphisms. In pigs, reciprocal-cross comparisons have indicated greater offspring parent similarity with dam than sire for lean:fat ratio. A difference was also observed for oxygen consumption and oxidative phosphorylation, but not for anaerobic energy metabolism, in a pig reciprocal-cross experiment. Information on the transmission of mtDNA and its effects on performance will have many implications not only for our understanding of mitochondrial genetics but also for the increased productivity of animals. There are also potential ramifications to the animal cloning industry.

Animals↗
PubMed1993

Magnetic resonance imaging in the diagnosis of dominantly inherited cerebello-olivary atrophy: a clinicopathologic study.

To facilitate the study of cerebellar degenerative disorders, improved clinical diagnosis is needed. Cerebello-olivary atrophy is pathologically distinct, but until now its diagnosis has been thought to require postmortem examination. This condition was considered as a possible diagnosis in two patients from different families with dominantly inherited ataxia. The affected members of each family demonstrated a stereotyped, progressive, "pure" cerebellar syndrome, which began with gait ataxia followed years later by dysarthria and limb ataxia. The autopsy findings for the first patient's father revealed paleocerebellar and olivary atrophy, characteristic of cerebello-olivary atrophy. Magnetic resonance imaging (MRI) of the brain of both patients revealed medullary, vermian and, to a lesser extent, cerebellar hemispheric atrophy but a normal pons. Dominantly inherited cerebello-olivary atrophy was diagnosed in both patients. Characteristic clinical and MRI features thus permit a confident clinical diagnosis of dominantly inherited cerebello-olivary atrophy. Recognition of this entity during life should advance the classification of cerebellar degenerative disorders.

Brain↗
PubMed1996

Inheritance of abnormal expression of SOS-like response in xeroderma pigmentosum and hereditary cancer-prone syndromes.

The time course of induction of SOS-like stress responses such as enhanced reactivation (ER) and enhanced mutagenesis (EM) has been investigated in UV-C-irradiated skin fibroblasts from a xeroderma pigmentosum (XP) family, using herpes simplex virus type 1 as a probe. Similar ER studies were performed in a Li-Fraumeni syndrome (LFS) family and in a family with a high incidence of breast, ovarian, and colon cancer. In two XP (complementation group B) patients, with a striking absence of skin tumors even at an age of >40 years, only induction of EM was observed, whereas ER was absent (XPER-). The ER- phenotype was inherited from the father, whereas cells from the mother exhibited normal expression of ER and EM. This suggests that the absence of ER is a hereditary trait that is not correlated with a repair-deficient phenotype. Abnormally high levels of ER were observed in UV-C-exposed skin fibroblasts from rive LFS patients. The inheritance of the ER response was studied in one LFS family. High levels of ER were observed only in cells derived from affected individuals carrying one mutated p53 allele, whereas cells from unaffected family members, carrying two wild-type p53 alleles, exhibited normal ER levels. This result shows that abnormally high levels of ER positively correlate with the occurrence of cancer in affected individuals from a LFS family. Interestingly, abnormally high levels of ER were observed in cells from afflicted as well as from unafflicted members of a family with a high incidence of breast, ovarian, colon, and stomach cancer. This suggests that these latter individuals have inherited a mutated, putative predisposing gene, resulting in abnormal expression of ER, but that cancer had not yet developed. The results indicate that the ER response can possibly be used as a prognostic marker to identify carriers in various hereditary cancer-prone syndromes at an early age.

Breast Neoplasms↗
PubMed1995

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1996

Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency.

Inherited resistance to activated protein C (APC-resistance), caused by a point mutation in the factor V gene leading to replacement of Arg(R)506 with a Gln (Q), and inherited protein S deficiency are associated with functional impairment of the protein C anticoagulant system, yielding lifelong hypercoagulability and increased risk of thrombosis. APC-resistance is often an additional genetic risk factor in thrombosis-prone protein S deficient families. The plasma concentration of prothrombin fragment 1 + 2 (F1 + 2), which is a marker of hypercoagulable states, was measured in 205 members of 34 thrombosis-prone families harbouring the Arg506 to Gln mutation (APC-resistance) and/or inherited protein S deficiency. The plasma concentration of F1 + 2 was significantly higher both in 38 individuals carrying the FV:Q506 mutation in heterozygous state (1.7 +/- 0.7 nM; mean +/- SD) and in 48 protein S deficient cases (1.9 +/- 0.9 nm), than in 100 unaffected relatives (1.3 +/- 0.5 nM). Warfarin therapy decreased the F1 + 2 levels, even in those four patients who had combined defects (0.5 +/- 0.3 nM). Our results agree with the hypothesis that individuals with APC-resistance or protein S deficiency have an imbalance between pro- and anti-coagulant forces leading to increased thrombin generation and a hypercoagulable state.

Adolescent↗
PubMed1997

Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

Sorsby fundus dystrophy (SFD) originally was characterized as an autosomal dominant disorder in which patients lose central vision during the 4th or 5th decade of life. Since Sorsby's initial description, interfamilial phenotypic variations have been noted and have given rise to controversy as to whether SFD constitutes more than one nosologic entity. In addition, several reports have proposed the existence of a recessively inherited form of SFD. The recent identification of the tissue inhibitor of metalloproteinases-3 (TIMP3) as the disease-causing gene in SFD has made it possible to address the questions of clinical and genetic heterogeneity. In this study, we reinvestigated a large, highly consanguineous Finnish family previously diagnosed as having early-onset autosomal recessive SFD. We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family. Our results, in conjunction with a critical review of the reported cases, render the existence of a recessive mode of inheritance in SFD questionable. Considering all available data, we suggest that SFD is a genetically homogeneous, autosomal dominant condition.

Adult↗
PubMed1996

Inherited disorders: a genetic primer.

Identification of inherited or genetic disorders has important implications for the prognosis and treatment of affected infants. This article addresses the three most common categories of genetic disorders--single-gene defects, chromosomal abnormalities, and multifactorial conditions. The principles of transmission, risk of inheritance, and clinical significance of each category are discussed, with examples of inherited disorders in each category.

Female↗
PubMed1997

Antithrombin and its inherited deficiency states.

Antithrombin is the primary inhibitor of thrombin that also inhibits many of the other activated serine proteinases involved in blood coagulation. A hypercoagulable state occurs when a deficiency of antithrombin exists in plasma; the deficiency may be either inherited or acquired. This failure to regulate adequately the activity of coagulation proteinases can, with additional provocation, result in clot formation and in the clinical presentation of thromboembolic disease. The structure and function of antithrombin, nature and heterogeneity of the molecular defects in the antithrombin gene associated with inherited antithrombin deficiency, prevalence and the natural history of inherited antithrombin deficiency are all reviewed here.

Antithrombin III↗
PubMed1997

[Features of the type of inheritance of myotonic dystrophy].

The characteristic features of the genetics of myotonic dystrophy (MD) in the Bulgarian population were studied. Seventy-nine pedigrees were analyzed, comprising a total of 119 patients with MD. The following characteristic features of the MD genetics were revealed: (1) Different families exhibited different patterns of the disease transmission, including vertical (as in the autosomal dominant mode of inheritance), horizontal (as in the autosomal recessive mode of inheritance), and mixed (the horizontal transmission for the first generations and the vertical transmission for the subsequent ones); (2) All studied pedigrees were traced back to clinically healthy ancestors; (3) The symptoms of MD exhibited in anticipation, as well as a clinical heterogeneity in sibships with respect to the severity of the disease. The characteristic features of the revealed mode of inheritance may be explained by dynamic mutations.

Female↗
PubMed1997

Inheritable and acquired hyperalgesia associated to abnormal opioid receptor set-up seem to act as opiate addiction preventors.

Hyperalgesia is known to depend on neuroplastic changes chiefly represented by long-term potentiation. These phenomena are proved to depend on excitatory amino acids (EAAs) action at the level of NMDA receptors. This action is known to be related to nitric oxide (NO) release. We found a visceral/vascular hyperalgesia state in migraine (M) sufferers as well as an inheritable systemic hyperalgesia in healthy subjects who are first-degree consanguineous with M sufferers; this type was labelled 'third hyperalgesia'. We discovered that a hyper-increase of plasma L-citrulline, equimolar co-product in the synthesis of NO, characterizes both M sufferers and their first-degree relatives who are exempt from primary headache. A similar pattern never occurred in healthy subjects having both a personal and family history negative for primary headache. We conclude that both 'third hyperalgesia' and a pattern of NO synthase (NOS) hyperactivity seems to be inheritable and can constitute, at least in part, a ground for developing headache. Morphine, proved to be unable to relieve M attack, was given in low doses that caused pain and side-effects in M sufferers only. This outcome seemingly indicates that M sufferers are characterized by a set-up of opioid receptor subtypes different from that of healthy headache-exempts. Following a period of morphine addiction and a withdrawal period, 65.07% of a group of 63 opiate addicts developed M syndrome. All these subjects were first-degree consanguineous relatives of primary headache sufferers. Discussion topics concern the activity of morphine in NO release and the role of NO in sensory transmission of both controls and hyperalgesia sufferers. It is suggested that the inheritable couple consisting of hyperalgesia and NOS hyperactivity can play some role in setting off the pain occurring following morphine in M sufferers.

Adult↗