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At least 217 records · Page 12Linked to original sources
PubMed1997

Inheritance of larval resistance to permethrin in Aedes aegypti and association with sex ratio distortion and life history variation.

The genetic mechanisms that confer larval permethrin resistance were investigated in two strains of Aedes aegypti, vectors of yellow fever and dengue hemorrhagic fever. Larval resistance to permethrin in an Ae. aegypti field-collected resistant Couva (R) strain was associated with the sex-determining locus by analysis of backcrosses to the susceptible Rockefeller (S) strain. The median lethal concentrations (LC50s) of these strains were 23.1 (95% confidence interval = 22.0-24.3) and 2.2 (2.0-2.3) parts/billion of permethrin, respectively. The estimated resistance ratio (RR) for the R strain was 10.8 (10.3-11.4) compared with the S strain. Resistance was inherited as partly recessive (dominance [D] = -0.31) with an estimated RR of 2.3 (2.1-2.4) in the F1 hybrids when the R parent was male. There were also significantly male-biased sex ratios for this cross. In contrast, inheritance was slightly dominant (D = 0.19) with an estimated RR of 4.1 (3.8-4.4) when the R parent was female, and no significant sex ratio bias of progeny was observed. Analysis revealed a strong paternal-strain effect in bioassay mortality, sex ratio, egg hatch, and fecundity. A maternal-strain effect was also evident for bioassay mortality. Similarly, a strong maternal by paternal strain interaction was also evident for sex ratio. Progeny of single-family backcrosses of F1 hybrids to R were statistically homogeneous for sex ratio, duration of oviposition, fecundity, and hatch rate. A significant increase in male bias was found for only one backcross to R, after treatment with permethrin. In contrast, complex patterns of inheritance of life histories were observed among backcrosses to S. Backcrosses to S had greater mean fecundities, shorter mean times to the start of oviposition, and shorter mean oviposition periods than did backcrosses to R. Hatch rates were statistically homogeneous among backcrosses, but all strikingly reduced relative to the parental generation. Times of start and duration of oviposition were highly negatively correlated with fecundity (first gonotropic cycle only) and rate of egg hatch. Females with lower fecundities had lower hatch rates, and there was a threshold of approximately 80 eggs per female, below which no eggs hatched. Generally all backcrosses had higher LC50s than expected from single-locus inheritance. Association between sex bias and inheritance of resistance was apparent, but no single genetic linkage model based on current understanding of sex chromosome genetics was consistent with these observations. These results may have epidemiologic importance considering that permethrin-soaked bed nets are being used in many countries to control the biting activity of disease vectors.

Aedes↗
PubMed2000

The molecular basis of inherited thrombophilia.

Even though it has been known for centuries that inherited defects of blood coagulation cause lifelong bleeding disorders, the existence of the counterpart, inherited thrombotic disorders, has been appreciated for only a few decades. Inherited thrombophilia can be defined as a genetically determined tendency to venous thromboembolism which characteristically occurs at a young age with no apparent cause and tends to recur. This article reviews the prevalence, biochemical and molecular basis of inherited thrombophilia, describes the main clinical manifestations and provides general guidelines for treatment. It is restricted to the more frequent and well-established causes of thrombophilia: antithrombin, protein C and protein S deficiency; resistance to activated protein C caused by mutations in coagulation factor V; and the gain-of-function mutation of factor II (prothrombin). Other causes of inherited thrombophilia are much rarer, such as dysfibrinogenemia, or not firmly established, such as abnormalities of the fibrinolytic system (plasminogen, histidin-rich glycoprotein) and thrombomodulin.

Family Health↗
PubMed2002

Inherited thrombophilia and first venous thromboembolism during pregnancy and puerperium.

Venous thromboembolism is a rare but threatening complication of pregnancy. Little conclusive information is available on the actual risk of venous thromboembolism during pregnancy or puerperium in women with inherited thrombophilia, particularly in carriers of factor V Leiden and of the G20210A prothrombin gene mutation. To determine the pregnancy-related and puerperium-related risk of venous thromboembolism in women with inherited thrombophilia, we performed a case-control study on 119 women who had a first episode of deep vein thrombosis and/or pulmonary embolism during pregnancy or puerperium and 232 healthy women who had at least one pregnancy without thrombosis. Inherited thrombophilia was diagnosed in 47 patients (39.5%) and 15 controls (6.5%). The relative risk of venous thromboembolism was 10.6 (95% CI, 5.6-20.4) for heterozygous carriers of factor V Leiden, 2.9 (95% CI, 1.0-8.6) for heterozygous carriers of the prothrombin mutation and 13.1 (95% CI, 5.0-34.2) for those with antithrombin, protein C or protein S deficiency taken together. Sixty-eight of the 119 women (57%) had thrombosis after delivery, confirming the puerperium as a particularly high-risk period. When women were divided into two groups of those with antenatal or postnatal thrombosis. the relative risks associated with each type of inherited thrombophilia were of similar magnitude. In conclusion, women with inherited thrombophilia have an increased risk of venous thromboembolism during pregnancy. Among thrombophilic abnormalities, the prothrombin mutation was the weakest risk factor. Thrombosis occurred more frequently in puerperium than in pregnancy, whether or not thrombophilia was diagnosed.

3' Untranslated Regions↗
PubMed1975

Investigation of the prevalence and inheritance of bronchial asthma in San Antonio de los Baños, Cuba.

A survey of bronchial asthma prevalence and inheritance patterns was carried out in the municipality of San Antonio de los Banõs, La Habana, Cuba, employing as a sample 3,295 of the area's inhabitants. These persons, selected by stratified, non-restricted sampling techniques, represented 11.02 per cent of the total population. The asthma prevalence found in this sample, which was considered representative of the local population, was 9.74 percent. No significant variations were noted in male and female prevalence rates. The occurrence of bronchial asthma is strongly influenced by inheritance. Our survey supported this view, and also showed that the age of asthma onset is influenced by whether or not the subject's family has a positive history of allergy or not. However, patients with a positive history on one side of their family had an age of onset that was not significantly different from patients with a positive history on both sides (p less than 0.35). Overall, the results tend to confirm that the inheritance of bronchial asthma is autosomal and does not conform to simple dominant or recessive inheritance patterns. Rather, asthma inheritance appears multifactorial, perhaps involving varying degrees of expression, indicating that more is involved than absence or deficiency of a single enzyme.

Adolescent↗
PubMed2001

[Results of treating medullary thyroid carcinoma: the differences between sporadic and inherited forms].

Medullary thyroid carcinoma (MTC) can be divided into two subgroups: sporadic or inherited. Hereditary form of MTC is often believed to be form with better prognosis than sporadic one. In this study the differences in MTC prognosis in Polish population of patients was analyzed. The group of 169 patients with MTC was examined. Hereditary cancer was stated in 48 (28%) patients. The median age of disease onset was 41 years (from 7 to 71 years). Genetic examination of RET protooncogene was performed in all patients. The calcitonin and CEA serum level analysis and radiological and radioisotopic examinations were used for monitoring of the disease course. Nineteen cases of MEN 2A syndrome, 11 cases of MEN 2B one and 18 cases of non classified familial MTC were recognized among patients with inherited MTC. Significantly lower age of disease onset in inherited MTC than in sporadic one was observed (27 years vs. 43.7 years, p < 0.001). Local or nodal recurrence was observed in 22 (13%) patients, distant metastases were stated in 21 (12%) patients. Basal or stimulated serum calcitonin level was increased in 85 (50%) patients. No significant differences between sporadic and inherited disease were observed. Eight patients died during observation, including 3 patients with sporadic MTC and 5 patients with inherited MTC. The updated 10-year survival rate was 97% in patients with sporadic MTC; in hereditary MTC it was about 20% worse. The complications related to the presence of adrenal tumors were the main reason for death in MEN2 and no significant differences in the course of MTC itself were observed.

Adolescent↗
PubMed2002

Screening for inherited thrombophilia: indications and therapeutic implications.

BACKGROUND AND OBJECTIVES: In recent years knowledge concerning inherited and acquired causes of thrombophilia has increased greatly. The most common inherited traits (deficiency in antithrombin, protein C, or protein S, factor V Leiden, prothrombin G20210A) and mild hyperhomocysteinemia are diagnosed in at least 40% of patients with venous thromboembolism (VTE). INFORMATION SOURCES: The authors work in this field, contributing to multicenter clinical and laboratory investigations and to peer-reviewed journals with original papers. The material examined in this review includes articles published in journals covered by MedLine. STATE OF THE ART: The associated risk for VTE is different according to genotype, being higher among the carriers of natural anticoagulant deficiencies and homozygotes for factor V Leiden. The overall prevalence of thrombophilic traits in the general population being near to 10% renders the probability of carrying multiple defects not excessively rare, with a further increase in thrombotic risk of up to 20-fold. Thus, clinical penetrance is heterogeneous, producing either mild or severe venous thrombotic manifestations, which can be unprovoked or associated with circumstantial risk factors and occur in either young or advanced age. More recently, inherited thrombophilia has been focused on as an important determinant of complications of pregnancy and puerperium. As expected, inherited thrombophilia produces an increased risk of VTE, particularly during puerperium. Moreover it is well established that thrombophilic women have an increased risk of late and/or recurrent fetal loss; whether they are at higher risk of pre-eclampsia, fetal growth restriction, and abruptio placentae is debated. Overall, 40% of women with obstetric complications other than VTE carry a thrombophilic trait. Yet, as a rule VTE and obstetric complications seem to occur in different individuals, probably because of the presence of unknown factors favoring one or other of these clinical manifestations. CONCLUSIONS AND PERSPECTIVES: Inherited thrombophilia is now viewed as a multicausal model, the clinical event being the result of gene-gene and gene-environment age-dependent interactions; the associated clinical manifestations can be heterogenous as regards severity as well as type of event (VTE or obstetric complication). Therefore the criteria for screening affected individuals who have suffered from the above complications or their relatives should not be very stringent. The patient's genotype could be a main determinant of the features of primary or secondary prophylaxis used in the affected individual.

Antithrombins↗
PubMed1975

Identifiying inherited disease through the family history.

The family pedigree record must be carefully recorded and reviewed on an annual basis. Review allows a continuting opportunity to identify new genetic risk factors. Physicians should be familiar with the pedigree patterns of autosomal dominant inheritance, sex-linked dominant inheritance, autosomal recessive inheritance, sex-linked recessive inheritance and polygenic inheritance. This understanding provides the basis for genetic counseling, prenatal diagnosis and improved therapy.

Adult↗
PubMed2004

Biomarkers of inherited susceptibility and cancer.

The etiology of cancer is likely to involve the effects of inherited genotypes at various points in the multistage process of carcinogenesis. For example, inherited genotypes could influence propensity to be exposed to carcinogens, generation of somatic mutations that initiate tumours, determination of a tumour's natural history or clinical prognosis and response to chemoprevention and treatment. Classes of inherited genotypes involved in multistage carcinogenesis are defined here to help focus the role inherited genotypes may have in the etiology and prevention of cancer. Knowledge of inherited genotype may assist in elucidating the nature and timing of specific genetic events in carcinogenesis, identify exposures that correlate with specific steps in carcinogenesis, lead to the development of risk assessment models and target relevant biochemical pathways for the development of preventive or therapeutic interventions.

Biomarkers↗
PubMed2006

[Molecular genetics of inherited neuropathies].

Inherited neuropathies are clinically and genetically heterogeneous. At least 28 genes and 12 loci have been associated with Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies. Most causes of inherited neuropathy have been discovered by positional cloning technique and in the past two years, the pace of CMT gene discovery has accelerated. Genetic studies have revealed the following gene mutations as the causes of inherited neuropathies; PMP22, MPZ, EGR2, SOX10, SIMPLE/LITAF, ARHGEF10 for CMT1 (autosomal dominant demyelinating form); GDAP1, MTMR2, SBF2/MTMR13, KIAA1985, NDRG1 PRX for CMT4 (autosomal recessive demyelinating form), MFN2, KIF1B, RAB7, GARS, NEFL, HSPB1, HSPB8 for CMT2 (autosomal dominant axonal form); LMNA, GAN1, KCC3, TDP1, APTX, SETX for AR-CMT2 (autosomal recessive axonal form); GIB1 for CMTX (X-linked CMT); DNM2 for CMT-DI (autosomal dominant CMT with intermediate nerve conduction velocities); and DHH for minifascicular neuropathy. These discovered CMT causing genes/proteins include those which show unpredictable correlations with the peripheral nervous system. However, these genes/proteins are definitely important for the peripheral nerve, and their discovery should pave the way for dramatic progress in the understanding of peripheral nerve biology. On the other hand, genotype-phenotype correlations of these genes are also important in order to understand the pathomechanisms of inherited neuropathy. Because, based on mutation studies, a large number of genes associated with both the CMT1/4 and CMT2 forms have been identified, it is usually difficult to predict the causative gene based on clinical information from patients without specific complications. To clarify the specific features and molecular mechanisms of five diseases that we previously reported, we reviewed recent progress in HMSN-P linked to chromosome 3, CMT4F caused by PRX, CMT4A caused by GDAP1, CMT4B2 caused by SBF2/MTMR13, and SCAN1 caused by TDP1. HMSN-P is characterized by late onset, proximal dominant severe muscle weakness, fasciculations, muscle cramp and sensory involvement. HMSN-P is a primary neuronopathy. Mutations in periaxin are associated with a broad spectrum of demyelinating neuropathies including DSS, a sensory dominant form and early onset slowly progressive CMT. Pathologically, loss of myelinated fibers, demyelination, small onion bulb formations, tomacula formation and myelin foldings were seen in sural nerves. Absence of septate like junction in the paranodal loop suggests that periaxin could be required for the adhesion complex. GDAP1 is a relatively common cause of CMT4. Half of reported patients showed the demyelinating form, while the rest showed the axonal form. The typical feature of CMT4A is paresis of the vocal cords and diaphragm. CMT4B2 is characterized by autosomal recessive, juvenile onset glaucoma and focally folded myelin in sural nerves. SBF2/MTMR13 mutations cause CMT4B2. Early onset glaucoma was seen in patients with nonsense mutations. SBF2/MTMR13 and MTMR2, which is the cause of CMT4B1, could be acting on the same 3-phosphoinositide signaling pathway. Clinical phenotypes of patients with TDP1, APTX, or SETX mutations share common clinical findings, namely cerebellar ataxia and axonal neuropathy. TDP1 and aprataxin both act on the single strand break repair pathway, with TDP1 working specifically on topoisomerase I related SSBR. Senataxin is a RNA helicase acting on RNA maturation and termination in yeast. Since these three proteins share a common pathway, disruption in any of them could induce a delay in the transcription process. The low rate of protein supply could lead to deaths of large neuronal cells.

Adaptor Proteins, Signal Transducing↗
PubMed1991

DRB genotyping supports recessive inheritance of DR3-associated susceptibility to insulin-dependent diabetes mellitus.

The mode of inheritance of HLA-associated susceptibility to insulin-dependent diabetes mellitus was investigated by the antigen genotype frequency among patients method in a white Caucasian population and a North Indian Asian population. DR genotypes were determined by DRB/DQB RFLP analysis. In white Caucasians, simple recessive and simple additive inheritance of a single HLA-associated disease susceptibility allele were rejected (P less than .025 and P less than 10(-6), respectively). The data were compatible with a three-allele model of disease susceptibility. In North Indian Asians, simple additive inheritance was rejected (P less than 10(-6)). The observed genotype frequencies were compatible with a single DR3-associated disease susceptibility allele which is inherited recessively. These data show that study of DR genotypes in populations of different ethnic origins may further the understanding of inherited susceptibility to insulin-dependent diabetes mellitus.

Diabetes Mellitus, Type 1↗
PubMedDate not supplied

Dominant inheritance in human cancer.

Familial aggregations of defined malignancies are of great importance for determining the genetic factors involved, as has been demonstrated for familial and sporadic retinoblastoma. In nearly all organs, neoplasms occur that are inherited similar to familial retinoblastoma (Rb). For example, more than 5% of all women suffering from breast cancer belong to breast cancer families in which the occurrence of the malignancy suggests an autosomal dominant pattern of inheritance. Familial colon cancer is associated with several well-known autosomal dominantly inherited polyposis syndromes, and also other susceptibilities without obvious clinical features. Site-specific cancers are often accompanied by other malignancies. In addition, there seem to be predispositions to a wider range of different, but well-defined neoplasms: e.g., adenocarcinomatosis of the colon and the endometrium, or the Li-Fraumeni/SBLA syndrome. The latter shows a spectrum of sarcoma, brain tumours, breast cancer, leukaemias, lung and adenocortical cancer. The genes leading to these types of dominantly inherited predispositions appear to be the tentatively so-called tumour suppressor genes, for which the Rb gene serves as a model. It manifests itself recessively on the level of the individual cell, which means both alleles must be deleted or inactivated before a retinoblast develops into a neoplastic cell. Clinical, epidemiological and molecular genetic studies have yet to establish whether the Rb model can be extended to all other forms of dominantly inherited human cancers.

Breast Neoplasms↗
PubMedDate not supplied

Recessively inherited deficiencies predisposing to cancer.

The genetic factors involved in the multistep process of carcinogenesis can be divided at least into two major categories: 1. Mutated or lost genes, which may directly represent one step in the sequential process (tumour suppressor genes); inheritance of one tumour suppressor gene causes dominant expression of the carcinogenic phenotype (the dominant inheritance is described in the accompanying paper); 2. Other genes, which lead to conditions that favour the development of cancer and generally are inherited in a recessive fashion; they are the subject of this paper. Autosomal recessively inherited diseases, such as xeroderma pigmentosum, ataxia-telangiectasia, Bloom's syndrome and Fanconi's anaemia display increased genome instability (chromosomal fragility and/or DNA-repair deficiencies) and are associated in the homozygote and probably also in the heterozygote state with defined malignancies. Neoplasms particularly of the lymphoreticular system frequently occur in patients with genetically determined immunodeficiencies (e.g. severe combined immune deficiency or Wiskott-Aldrich syndrome). People differ due to their individual genetic constitution in their responses to various classes of carcinogens such as physical and chemical agents, to dietary habits, as well as to viruses. Furthermore, tumours are often found in patients displaying premature aging (e.g. Werner's syndrome). In addition, several metabolic abnormalities such as genetic syndromes featuring chronic liver disease, but also many other inherited metabolic conditions have cancer as a regular or frequent complication.

DNA Repair↗
PubMed1990

Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene.

A high prevalence of renal failure has been reported in bull terriers in Australia. The pattern of inheritance was analysed in a family of 33 bull terriers in which 10 dogs had renal disease manifested by proteinuria, ultrastructural abnormalities in the glomerular basement membrane, renal failure, or 'end stage' kidneys. The presence of at least one affected parent for each affected offspring, the approximately equal male/female ratio and the apparent absence of 'generation-skipping', strongly supported an autosomal dominant mode of inheritance, assuming a fully penetrant single major gene locus. Further evidence was not compatible with either an autosomal recessive or X-linked inheritance pattern. This contrasts with the X-linked inheritance shown in Alport's-type human hereditary nephritis and hereditary glomerulopathy in the samoyeds. Hereditary nephritis in the bull terrier should be a useful model for non-Alport's-type human hereditary nephritis, which is also reported to have an autosomal dominant inheritance pattern.

Animals↗
PubMed1987

Laboratory screening of inherited thrombotic syndromes.

The prevalence of inherited thrombotic syndromes in the general population (1 in 2,500/5,000) appears to be higher than that of inherited bleeding disorders. The problems of their laboratory diagnosis are reviewed and a screening procedure is proposed. The most important candidates for screening are patients with unexplained venous thromboembolism at ages of less than 40-45 years, particularly when thrombotic episodes are recurrent. Screening must start from the exclusion of common acquired causes of thrombophilia. A negative family history does not exclude inherited thrombophilia, because the defects have a low penetrance and fresh mutations may have occurred in the propositi. Laboratory screening is based on a two-step procedure. The first step is aimed at detecting, preferably with specific functional assays, the most frequent and well established causes of inherited thrombophilia, i.e. deficiencies or dysfunctions of antithrombin III, protein C, protein S, plasminogen and fibrinogen. The tests included in the second step of the screening are aimed at detecting the less common or less well established causes of inherited thrombophilia (low heparin cofactor II, defective release of tissue plasminogen activator, and high plasminogen activator inhibitor). The simplest, more reliable and specific assay methods to be used in laboratory practice are recommended.

Adult↗
PubMed1982

Evidence for recessive and against dominant inheritance at the HLA-"linked" locus in coeliac disease.

It has been proposed that gluten sensitive enteropathy (GSE) results from the interaction of two loci: one locus linked to HLA and associated with dominant inheritance, and the other, a non-HLA-linked GSE-associated B-cell alloantigen, exhibiting recessive inheritance. We have shown in previous analyses that a two-locus, dominant-recessive model is less compatible with the existing population prevalence and observed familial segregation data than is a recessive-recessive two-locus model. Here we present additional analyses of reported population and familial HLA data that support the recessive mode of inheritance for the HLA-linked disease locus. Reported data from HLA typing of affected sib pairs, the association of GSE with DR3 and DR7 in different populations, and the proportions of different HLA phenotypes and genotypes were compared with expected data derived by three different methods. The HLA data analyses consistently reject a dominant mode of inheritance for the presumed HLA-linked disease allele but do not reject a recessive model. The affected sib-pair data also support a recessive model. These analyses are consistent with our previous prediction that the HLA-"linked" disease allele in GSE is recessive inherited.

Celiac Disease↗
PubMed1982

[Polygenic inheritance of familial malignant melanoma].

Familial occurrence of malignant melanoma is mostly due to a hereditary disposition which is phenotypically characterized by light complexion and multiple precursor nevi. The inheritance of this disposition is not monogenic but polygenic. The following arguments are in favor of polygenic inheritance: Lack of a uniform pattern of transmission, frequent sporadic occurrence of this phenotype, variable intensity of manifestation within the same family, evidence for polygenic inheritance of fair complexion, and demonstration of polygenic inheritance of melanoma in Xiphophorin fish. In melanoma families, children of affected women develop melanoma more frequently than children of affected men. The authors interpret this phenomenon as a manifestation of the Carter effect. This mechanism is proposed as a new argument in favor of a polygenic inheritance of familial malignant melanoma.

ABO Blood-Group System↗
PubMed1994

In utero hematopoietic stem cell transplants for inherited diseases.

PURPOSE: The treatment of choice for many inherited diseases is bone marrow transplantation (BMT). Limitations to using marrow transplants for inherited diseases include (a) the toxicity associated with high doses of chemotherapy necessary to obtain engraftment; (b) the complications associated with graft-versus-host disease (GVHD); (c) the fact that only 20-25% of children will have a human leukocyte antigen (HLA)-matched donor; and (d) the concern that, at least for some inherited diseases, significant organ damage, especially to the nervous system, has occurred by the time the child is diagnosed and evaluated for possible BMT. In utero transplantation of hematopoietic stem cells (HSCs) offers the possibility of overcoming many of these limitations. PATIENTS AND METHODS: One of the biggest hurdles to a successful transplant is the ability of the recipient to reject the donor marrow. Except in patients with severe combined immunodeficiency disease (SCID), overcoming this hurdle requires high doses of chemotherapy. Early in gestation, the fetus is significantly immunoincompetent. Before 14-15 weeks of gestation, the human fetus appears to be similar to a child with SCID in its inability to reject allogeneic cells. Potential sources for HSCs are HLA-matched sibling marrow, fetal liver, parental bone marrow, and cord blood. RESULTS: With fetal liver, only cells from fetuses < 10-12 weeks are acceptable because of the high risk of GVHD. With parental marrow, the cells must be T cell depleted in order to minimize the risk for GVHD. Problems in using fetal liver include the inability to obtain sufficient numbers of cells and inadequate supplies of donor tissue. The source and supply of parental bone marrow is almost unlimited, but, because of the need for T-cell depletion, bone marrow from a parent may have a lower engraftment rate in the child. CONCLUSIONS: Studies in fetal murine and Rhesus models using fetal liver or T cell-depleted bone marrow from adult animals suggest that engraftment can be successfully obtained, providing the transplant is performed sufficiently early in gestation. To date, at least a dozen in utero human transplants have been attempted worldwide in fetuses diagnosed with a variety of inherited diseases. Because of the small number of transplanted fetuses and the variety of diseases and differing transplant conditions, it is difficult to draw any firm conclusions regarding ultimate efficacy of the procedure and its risk. However, it does appear that the age of gestation of the recipient, the dose of cells infused, and possibly the route of administration of the HSCs will be critical factors in determining success rates for this approach. The successful application of in utero transplantation would allow treatment of a variety of inherited diseases early in gestation while eliminating many of the risks associated with conventional BMT.

Animals↗
PubMed1996

[Confirming the cause of inherited chronic chorea in Chinese patients].

OBJECTIVE: Huntington's disease (HD, known as inherited chronic chorea in China) is an autosomal dominant disorder. Almost all of the cases of inherited chronic chorea reported in the chinese literature were sporadic while about one-third of the HD families in foreign reports were related. To find out whether the gene defect responsible for inherited chronic chorea in Chinese is the same as that for Huntington's disease in Caucasians. METHOD: PCR method was employed to amplify the (CAG)n repeat sequence of the IT15 gene in normal Chinese and members of the families suffering from inherited chronic chorea in Chinese. RESULTS: The copy number of the repeats varied from 16 to 26 in 25 normal Chinese and increased significantly from 44 to 53 in 7 affected members from 4 families. CONCLUSION: It was confirmed for the first time at the gene level that the mechanism for inherited chronic chorea in Chinese is the same as that for Huntington's disease in Caucasians.

Adult↗