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At least 973 records · Page 54Linked to original sources
PubMed1999

Genetic basis of autoimmune sialadenitis in MRL/lpr lupus-prone mice: additive and hierarchical properties of polygenic inheritance.

OBJECTIVE: To clarify the mode of inheritance of autoimmune sialadenitis in MRL/MpJ-lpr/lpr (MRL/lpr) lupus-prone mice and identify the susceptibility loci. METHODS: MRL/lpr, C3H/HeJ-lpr/lpr (C3H/lpr), (MRL/lpr x C3H/lpr)F1 intercross, and MRL/lpr x (MRL/lpr x C3H/lpr)F1 backcross mice were prepared, and sialadenitis in individual mice was analyzed by histopathologic grading. The genomic DNA of the backcross mice was examined by simple sequence-length polymorphism analysis, and the highly associated polymorphic microsatellite markers with sialadenitis were determined as sialadenitis susceptibility loci. RESULTS: Four susceptible gene loci recessively associated with sialadenitis were mapped on chromosomes 10, 18, 4, and 1, respectively. These loci manifested additive and hierarchical properties in the development of sialadenitis. CONCLUSION: The results indicate that sialadenitis in MRL/lpr mice is under the control of polygenic inheritance, possibly involving allelic polymorphism.

Animals↗
PubMed1999

The role of inheritance in sporadic Parkinson's disease: evidence from a longitudinal study of dopaminergic function in twins.

Despite the major finding of a genetic defect being responsible for the Parkinson's disease (PD) phenotype in some kindreds with dominantly transmitted PD, the role of inheritance in the cause of the more widespread sporadic form of the disease is still unclear. Twin studies are a classic tool for assessing the influence of hereditary factors in diseases; however, the application of this approach to late-onset illnesses, like PD, poses some problems because of the identification of subclinical cases. In the present longitudinal study we have used [18F]dopa and positron emission tomography to study dopaminergic function in twin pairs at baseline clinically discordant for PD. At baseline, the concordance for subclinical striatal dopaminergic dysfunction was found to be significantly higher in 18 monozygotic than in 16 dizygotic twin pairs (55% vs 18%, respectively). The asymptomatic monozygotic cotwins all showed progressive loss of dopaminergic function over 7 years and 4 developed clinical PD. None of the dizygotic twin pairs became clinically concordant. At follow-up, the combined concordance levels for subclinical dopaminergic dysfunction and clinical PD were 75% in the 12 monozygotic and 22% in the 9 dizygotic twin pairs evaluated twice. Our findings suggest a substantial role for inheritance in sporadic PD.

Aged↗
PubMed1977

Inherited metabolic disease: prospects for the future in both basic and clinical research.

The birth of a child with an inherited disorder is often the beginning of a life-long problem for the whole family. About 8.5% of paediatric deaths and 4.7% of paediatric hospital admissions are due to autosomal and sex-linked recessive diseases. These figures are likely to be erroneously low because of incomplete ascertainment. The inherited metabolic diseases therefore merit study on economic as well as humanitarian grounds. Investigations of the disorders of purine metabolism have been conducted for more than a century and a half in the borderland between biochemistry and medicine, illuminating both disciplines and reflecting their separate developments. These studies are a general model for work in other branches of human intermediary metabolism. It is hoped that the basic study of the inborn errors or metabolism will expand our knowledge of the defective gene and of its product, the enzyme protein. Clinical studies should aim to improve the prenatal, postnatal and carrier-state diagnosis of these disorders, and to improve their treatment by methods which can be made practicable and generally available at the clinical level. There may be some hope for enzyme replacement in certain circumstances. The prospect for genetic modification at the clinical level is almost infinitely far away, where many would say that is should remain.

Amniotic Fluid↗
PubMed1977

Complicated colobomatous microphthalmos in the BW rat: a new form of inherited retinal degeneration.

A new model of inherited retinal degeneration has been found in the rat. It is inherited in association with a number of other ocular defects, including microphthalmos, coloboma, retinal dysplasia, optic nerve hypoplasia and/or aplasia, as well as medullation of the nerve fiber layer of the retina. Together, these abnormalities constitute a condition referred to as complicated colobomatous microphthalmos. This condition was originally discovered in the Bmn strain of rats but subsequently transferred to a new genetic background in the Bmn-wys strain of rats (BW). This facilitated the histological evaluation of both the developmental and degenerative ocular defects in the adult animals. A well defined pattern emerged relating eye size, optic nerve size and retinal histology. Normal-sized eyes had normal-sized optic nerves and normal retinal histology while intermediate-sized eyes with no optic nerves had uniformly thin retinas. In contrast, intermediate-sized eyes with small optic nerves had areas of both normal thickness and thin retina. All of these eyes developed retinal degeneration characterized by a late onset and slow progression associated with normal phagocytic activity in the pigment epithelium and a tendency for the rod outer segments to fragment into very thin structures rather than accumulate as lamellar debris. This indicates that the retinal degeneration in the BW model differs in many respects from the well studied RCS model.

Animals↗
PubMed2004

Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.

Antithrombin (AT), the most important coagulation serine proteases inhibitor, plays an important role in maintaining the hemostatic balance. Inherited AT deficiency, mainly characterized by predisposition to recurrent venous thromboembolism, is transmitted in an autosomal dominant manner. In this study, we analyzed the underlying genetic alterations in 12 unrelated Portuguese thrombophilic families with AT deficiency. At the same time, the modulating effect of the FV Leiden mutation, PT 20210A, PAI-1 4G, and MTHFR 677T allelic variants, on the thrombotic risk of AT deficient patients was also evaluated. Three novel frameshift alterations, a 4-bp deletion in exon 4 and two 1-bp insertions in exon 6, were identified in six unrelated type I AT deficient families. A novel missense mutation in exon 3a, which changes the highly conserved F147 residue, and a novel splice site mutation in the invariant acceptor AG dinucleotide of intron 2 were also identified in unrelated type I AT deficient families. In addition to these, two previously reported missense mutations changing the AT reactive site bond (R393-S394) and leading to type II-RS deficiency, and a previously reported cryptic splice site mutation (IVS4-14G-->A), were also identified. In these families, increased thrombotic risk associated with co-inheritance of the FV Leiden mutation and of the PAI-1 4G variant was also observed. In conclusion, we present the first data regarding the underlying genetic alterations in Portuguese thrombophilic families with AT deficiency, and confirm that the FV Leiden mutation and probably the PAI-1 4G variant represent additional thrombotic risk factors in these families.

Amino Acid Sequence↗
PubMed2006

High prevalence of inherited prothrombotic risk factors in 134 consecutive patients with von Willebrand disease.

We screened 134 consecutive patients with von Willebrand disease (VWD) (106 type 1, 26 type 2, and 2 type 3 VWD) for the most important inherited prothrombotic risk factors. One hundred eight patients (80.6%) were positive for at least one of the prothrombotic risk factors screened for. A high prevalence of prothrombin G20210A (10.5%) and factor V Leiden (11.9%) mutations was found with allele frequencies of 5.2 and 6%, respectively. Three carriers of multiple prothrombotic gene mutations experienced a thrombotic event. Our study suggests that the recent evidence of an association between inherited thrombotic and hemorrhagic disorders also holds true in VWD patients.

Adult↗
PubMed1990

Use of DDAVP in inherited and acquired platelet dysfunction.

Twenty-one patients with prolonged bleeding times secondary to inherited disorders of platelet function and eight patients with prolonged bleeding times secondary to acquired platelet dysfunction were given 0.3 micrograms per kilogram of DDAVP, 1-deamino-8-D-arginine vasopressin, intravenously. Sixteen of twenty-two DDAVP trials in patients with inherited platelet dysfunction (73%) and seven of the nine DDAVP trials in patients with acquired platelet dysfunction (78%) resulted in normalization or shortening of the prolonged bleeding times by at least 4 min. The bleeding time response did not correlate with changes in the levels of von Willebrand factor (vWf) antigen or ristocetin cofactor activity, nor was it associated with changes in vWf multimeric analysis or in vitro platelet aggregations following the administration of DDAVP. Shortening of the bleeding time with DDAVP was seen in patients with a failure to release/storage pool type defect, thromboxane synthesis type defect, Bernard-Soulier syndrome, Glanzmann's thrombasthenia, the May-Hegglin anomaly, liver disease, nonuremic renal disease, myelofibrosis, and Tangier's disease.

Adolescent↗
PubMedDate not supplied

Mode of inheritance of dermatoglyphic pattern intensity index on fingers in five Indian populations: a comparative study between individual trait and its factor.

Our previous study (Karmakar et al. 2005 Ann. Hum. Biol. 32:445-468) was on 500 pedigrees of five different populations, with factor 1 comprising quantitative finger dermatoglyphics (including pattern intensity index, PII) and factor 1 controlled by major genes. The present results of a complex segregation analysis of the individual trait PII of the same five populations were compared with previous results to ascertain the extent of variation between individual trait PII and its factor (factor 1) with respect to mode of inheritance. The comparative findings are very similar in five populations, irrespective of different ethnic groups. This result suggests that the variability of their biological relevance is influenced by the same genetic component, thus representing a similar mode of inheritance with major gene involvement in all populations.

Adult↗
PubMed2002

Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.

We report an 18-month-old girl with Alagille syndrome, caused by a submicroscopic deletion of chromosome 20p, including the Jagged1 (JAG1) gene. FISH using a BAC probe containing JAG1 identified the deletion. Chromosomes were normal at the 550 band level. The deletion was inherited from her phenotypically normal mother who was found to have the deletion in 9/20 cells studied from peripheral blood. This is the first report of a JAG1 deletion inherited from an apparently unaffected mosaic parent.

Alagille Syndrome↗
PubMed1980

Frontometaphyseal dysplasia--evidence for X-linked inheritance.

Fewer than two dozen cases of frontometaphyseal dysplasia have been reported, some doubly or erroneously. In most reports, no information is available on possible variable manifestations in female relatives. Statements that the disorder is inherited as a dominant trait, and as an X-linked recessive have caused us to consider genetic heterogeneity. A recent large kindred prompted us to survey all published examples. We asked authors to reexamine the families they studied for any expression in relatives. In some cases, no further information could be elicited, but some additional information was gathered and pedigrees modified. This evidence was sufficient to indicate X-linked inheritance, with severe manifestations in males and extremely variable manifestations in females.

Bone Diseases, Developmental↗
PubMed1982

Phenotypic effects of inherited balanced translocation.

We report two cases of inherited balanced translocation with severe CNS abnormalities and a number of other physical findings. In both cases a multiple congenital anomalies/mental retardation (MCA/MR) syndrome was suspected. However, in one case, parturitional and neonatal complications probably resulted in brain damage; in the other, prenatal brain damage due to intoxication from a dead twin or porencephalic cysts due to vascular accidents remain unconfirmed hypotheses. It is concluded that no MCA/MR syndrome was present and that the inherited balanced translocation was a coincidental finding in these two brain-damaged, mentally retarded children.

Abnormalities, Multiple↗
PubMed1983

Autosomal dominant inheritance of the Aarskog syndrome.

Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum. Pedigrees have consistently suggested X-linked inheritance, although the possibility of autosomal dominant inheritance was not excluded. We present a father and two sons affected with the Aarskog syndrome. Thus, the Aarskog phenotype either is genetically heterogeneous or a sex-influenced autosomal dominant trait as shown by the deficiency of affected females. An ascertainment bias for males could be owing to the shawl scrotum. We have reviewed the literature and tabulated findings in 82 previously reported cases.

Abnormalities, Multiple↗
PubMed1984

Ruvalcaba syndrome: autosomal dominant inheritance.

A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes. Less frequently seen were osteochondritis of the lumbar vertebral bodies, cone-shaped epiphyses of the phalanges, and narrow diaphyses of the metacarpals and metatarsals. None of the affected individuals was mentally retarded. The propositus, a 3-year-old boy, and his mother were typically affected, while his 8-month-old sister, the 55-year-old maternal grandfather, and his 46-year-old younger sister had several of these manifestations. Information on the remaining four affected relatives was incomplete. The syndrome was transmitted in a dominant fashion with variable expressivity. There were two instances of male-to-male transmission. This effectively ruled out X-linked inheritance. The transmission of the syndrome in three other reported pedigrees was also compatible with autosomal dominant inheritance with variable expressivity and incomplete penetrance.

Abnormalities, Multiple↗
PubMed1985

Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance.

Uncomplicated hypospadias was found in eight members of a large, consanguineous Bedouin family. Virilization and fertility were normal in the only postpubertal individual. The inheritance is most likely autosomal recessive and we suggest that in some of the familial cases in which polygenic or multifactorial inheritance was previously proposed, homozygosity for recessive genes may be responsible for the increased risk to siblings. Dominantly transmitted hypertelorism with diastema was an independent and coincidental finding in this family.

Consanguinity↗
PubMed1985

A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation.

The view that the Martin-Bell syndrome (X-linked mental retardation with fragile site at Xq27/8) is inherited in a regular X-linked fashion is becoming untenable with the increasing number of reports of transmission through phenotypically normal males. Analysis of the published pedigrees containing such males shows that their heterozygous daughters are never mentally retarded, and have either no fragile site or very few indeed. By contrast, in the next generation, a third of the female heterozygotes are mentally subnormal with an average of 29% fragile sites. These data suggest a premutation that generates the definitive mutation only when transmitted by a female. We propose an inherited sub-microscopic chromosome rearrangement involving the Xq27/8 region that causes no ill effect per se, but generates a significant genetic imbalance when involved in a recombination event with the other X chromosome. This hypothesis explains many of the puzzling genetic aspects of the Martin-Bell syndrome, but it also complicates the interpretation of linkage analysis with genetic markers.

Crossing Over, Genetic↗
PubMed1986

The mode of inheritance of craniomandibular osteopathy in West Highland White terrier dogs.

Craniomandibular osteopathy is a disease of several breeds of dogs, principally West Highland White and Scottish terriers. It is characterized by a non-neoplastic proliferation of bone on the ramus of the mandible and/or the tympanic bulla. The disease in various respects resembles Paget's disease and infantile cortical hyperostosis of humans. A retrospective pedigree analysis of a kindred of West Highland White terriers was performed to determine if the trait was inherited and to determine mode of inheritance. This study indicated that in West Highland White terriers, the condition is an autosomal recessive trait.

Animals↗
PubMed1987

Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy.

Uncombable or spun-glass hair (pili trianguli et canaliculi) is an uncommon condition in which the hair is "unmanageable" and has a distinct appearance on scanning electron microscopy. The hair is usually grossly abnormal in infancy and childhood, but may become normal later in life. Although dominant inheritance has been observed, most cases have been sporadic. Both recessive and dominant transmission with incomplete penetrance have been suggested as modes of inheritance. We report the occurrence of this condition in a young girl, her brother, and her father. Although the proposita and her brother had characteristically uncombable hair, their father appeared normal and denied any history of hair abnormality. However, the characteristic hair morphology was observed on scanning electron microscopy in all 3 relatives, documenting dominant transmission and complete penetrance of the gene in this family.

Child, Preschool↗
PubMed1989

Sex vesicle "entrapment": translocation or nonhomologous recombination of misaligned Yp and Xp as alternative mechanisms for abnormal inheritance of the sex-determining region.

Abnormal inheritance of the sex determining region, normally located on Yp, results in about 1 in 20,000 phenotypic males with a 46,XX genotype. Studies to date indicate that many 46,XX males apparently arise due to a balanced, yet abnormal, nonhomologous interchange of Xp and Yp termini. However, 2 of the 5 XX males we report here have 3 copies of the pseudoautosomal locus, MIC2. Thus, they appear to have inherited the sex determining region as a result of Yp sequences being added onto the X pseudoautosomal region. Such an unequal, extremely nonhomologous interchange could alternatively be considered to arise from an unbalanced translocation of Yp to Xp. Our results suggest that very unequal interchange or translocation of Yp sequences onto the X pseudoautosomal region is not as rare a mechanism for XX males as originally thought. We also suggest that sex vesicle "entrapment" favors the association of a Yp fragment to the X pseudoautosomal region over a translocation to either Xq or an autosome.

Blotting, Southern↗