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PubMed1989

Autosomal recessive inheritance of airway hyperreactivity to 5-hydroxytryptamine.

We have previously reported that airway hyperresponsiveness to acetylcholine (ACh) is inherited as an autosomal recessive trait in A/J and C3H/HeJ mice and the progeny of crosses between them (FASEB J. 2: 2605-2608, 1988). In the present report, we have extended these studies by evaluating the biological variability in the airway response to 5-hydroxytryptamine (5-HT) and ACh among multiple genetically standardized inbred strains of mice. The pattern of airway responsiveness to ACh differed significantly from that of 5-HT in nine inbred strains of mice. A/J mice showed nonspecific airway hyperresponsiveness to both 5-HT and ACh. DBA/2J mice were hyperresponsive to 5-HT but not to ACh. An airway phenotype that resembled these inbred strains is termed HYPERREACTIVE. The C3H/HeJ and C57BL/6J inbred strains were minimally reactive to either ACh or 5-HT. Airway phenotypes that resembled these minimally reactive strains are termed HYPOREACTIVE. The frequency of HYPERRACTIVE and HYPOREACTIVE offspring from crosses between A/J and C3H/HeJ mice or DBA/2J and C57BL/6J mice is consistent with a single autosomal recessive gene, primarily determining airway hyperresponsiveness to 5-HT. We report linkage studies which suggest that these genes are not closely linked and that 5-HT and ACh airway hyperresponsiveness is inherited independently. The results of these studies suggest that murine nonspecific airway hyperresponsiveness is determined by multiple genes.

Acetylcholine↗

PubMedDate not supplied

A new inherited interstitial deletion of the distal long arm of chromosome 4.

A 12-year-old boy showed mild dysmorphic features, late presentation of learning difficulties and behaviour problems, obesity, breast hypertrophy and bilateral slipped capital femoral epiphysis. His mother also has mild dysmorphic features, obesity, and a similar history of late presentation of learning difficulties and behaviour problems. Cytogenetic analysis demonstrated an inherited distal long arm deletion of one chromosome 4. The boy's karyotype was interpreted as 46,XY,del(4)(q32 q33)mat and the mother's karyotype as 46,XX,del(4)(q32 q33). This is the second report of an inherited distal 4q deletion and the first report of interstitial chromosome 4 deletion involving q32 q33 segments.

Abnormalities, Multiple↗

PubMed2001

Rapid multipoint linkage analysis via inheritance vectors in the Elston-Stewart algorithm.

The calculation of multipoint likelihoods of pedigree data is crucial for extracting the full available information needed for both parametric and nonparametric linkage analysis. Recent mathematical advances in both the Elston-Stewart and Lander-Green algorithms for computing exact multipoint likelihoods of pedigree data have enabled researchers to analyze data sets containing more markers and more individuals both faster and more efficiently. This paper presents novel algorithms that further extend the computational boundary of the Elston-Stewart algorithm. They have been implemented into the software package VITESSE v. 2 and are shown to be several orders of magnitude faster than the original implementation of the Elston-Stewart algorithm in VITESSE v. 1 on a variety of real pedigree data. VITESSE v. 2 was faster by a factor ranging from 168 to over 1,700 on these data sets, thus making a qualitative difference in the analysis. The main algorithm is based on the faster computation of the conditional probability of a component nuclear family within the pedigree by summing over the joint genotypes of the children instead of the parents as done in the VITESSE v. 1. This change in summation allows the parent-child transmission part of the calculation to be not only computed for each parent separately, but also for each locus separately by using inheritance vectors as is done in the Lander-Green algorithm. Computing both of these separately can lead to substantial computational savings. The use of inheritance vectors in the nuclear family calculation represents a partial synthesis of the techniques of the Lander-Green algorithm into the Elston-Stewart algorithm. In addition, the technique of local set recoding is introduced to further reduce the complexity of the nuclear family computation. These new algorithms, however, are not universally faster on all types of pedigree data compared to the method implemented in VITESSE v. 1 of summing over the parents. Therefore, a hybrid algorithm is introduced which combines the strength of both summation methods by using a numerical heuristic to decide which of the two to use for a given nuclear family within the pedigree and is shown to be faster than either method on its own. Finally, this paper discusses various complexity issues regarding both the Elston-Stewart and Lander-Green algorithms and possible future directions of further synthesis.

Algorithms↗

PubMed2002

Understanding inherited disease through human migrations: a south-west Asian perspective.

Mitochondrial DNA (mtDNA) and the Y chromosome are inherited in a haploid manner and have been used extensively to reconstruct human lineages. mtDNA and the majority of the Y chromosome lack recombination and show high rates of apparently neutral mutation. Here, we demonstrate how detailed analysis of these uniparental inherited markers can reveal general and more subtle population movements within south-west Asia. These include a major migration of modern humans from East Africa to western and southern Asia around 60,000 YBP, migrations of populations from the Fertile Crescent in south-western Iran to India approximately 8,000 YBP, and migrations of Indo-European speakers from Central and West Asia to India approximately 5,000 YBP. We highlight how the understanding of these, and other population movements, can be useful in tracing the dispersal of disease-causing mutant alleles, and how these data could be applied to predicting the segregation of mutant alleles within populations.

Journal Article↗

PubMed2003

Thrombin generation measurement in factor VII-depleted plasmas compared to inherited factor VII-deficient plasmas.

Activated factor VII (FVIIa)/tissue factor enzyme complex is the initiator of the coagulation cascade in vivo. FVIIa is of particular interest because it has been found to induce haemostasis in various bleeding disorders. In order to evaluate the FVII threshold that is required to initiate the clotting cascade, we measured thrombin generation in FVII-depleted plasmas spiked with increasing amounts of normal pooled plasma and in inherited FVII-deficient plasmas. According to the literature, only trace amounts of FVII are sufficient to initiate blood coagulation in vitro. By contrast, results on inherited FVII-deficient plasmas showed a wide variety of the amounts of thrombin generated in plasmas with the same FVII coagulant activity levels. This suggests that the threshold of FVII required to initiate haemostasis in vivo depends on one or more, hitherto unknown, plasmatic or cellular factors.

Blood Coagulation Tests↗

PubMedDate not supplied

Acquired and inherited thrombophilic factors and the risk for residual venous thrombosis.

Acquired and inherited thrombophilic factors increase the risk for (recurrent) venous thrombotic disease. However, little is known about the pathophysiological mechanisms causing these recurrences, or the persistence of thrombosis despite adequate treatment. Because residual thrombosis has been associated with a worse prognostic outcome, we performed an explorative study in order to investigate the prevalence of residual thrombotic lesions after anticoagulant treatment in patients with deep venous thrombosis. Thrombotic parameters as assessed by ultrasonography after a 12-week course of anticoagulants were used. Both thrombophilia in general and acquired thrombophilia in particular were found to be associated with the extent of residual thrombosis. Of the individual thrombophilic factors, protein C deficiency, prothrombin 20210A mutation, active malignant disease and lupus anticoagulant were associated with an increased risk of residual thrombotic mass. Patients with inherited thrombophilia did not differ from patients without any thrombophilic abnormality with regard to residual thrombotic mass [relative risk (RR) 1.3, 95% confidence interval (CI) 0.9-1.8], while acquired thrombophilic disorders increased the risk for residual thrombotic mass as compared to patients without any defect (RR 1.7, 95% CI 1.2-2.2). Although these results should be confirmed in a larger study, they might help us form hypotheses concerning why patients with thrombophilia are more prone to recurrent venous thromboembolic disease.

Anticoagulants↗

PubMed2005

Inherited hyperuricemic disorders.

Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from deficiency of hypoxanthine-guanine phosphoribosyl transferase, overactivity of phosphoribosylpyrophosphate synthetase and deficiency of glucose-6-phosphatase. The undersecretion disorders are autosomal dominantly inherited and are heterogeneous. A major number of these patients result from mutations in the gene that codes for uromodulin. Treatment is with allopurinol.

Glycogen Storage Disease↗

PubMed2006

Inherited thrombophilia: treatment during pregnancy.

OBJECTIVE: Inherited thrombophilia is associated with thromboembolic events and/or poor obstetric outcome. We evaluated the pregnancy outcome in women with inherited thrombophilia treated with low-molecular-weight heparin (LMWH). METHODS: 38 thrombophilic women with a history of thromboembolic events and/or poor obstetric outcome were treated during their 39 consecutive pregnancies with LMWH from pregnancy verification until 4-6 weeks in puerperium. A fixed dose of enoxaparin 4,000 IU/day (except 1 case who required nadroparin 0.3 ml/day) was administered in most cases, adopting a higher dose (6,000 IU/day to 6,000 IU twice a day) in those with previous thromboembolic events. RESULTS: In the treated women, all had a good obstetric outcome, whereas in the previous untreated pregnancies (n = 78), the rate of fetal loss (early and late) was 76.9%, only 12 live infants survived (66.6%). Moreover, birth weight resulted significantly higher in live infants born to treated pregnancies in comparison to that of previous untreated pregnancies (p = 0.009). No maternal thrombosis or major bleeding complications were recorded. CONCLUSIONS: The treatment with LMWH improved pregnancy outcome resulting effective and safe in thrombophilic women with a history of thromboembolic events and/or poor obstetric outcome.

Adult↗

PubMed1990

Familial, alternating Bell's palsy with dominant inheritance.

In this paper we present a study of 6 cases, running through three generations of a Dutch family, with alternating Bell's palsy in an autosomal dominant mode of inheritance. The study included medical history data, neurological examination, blood glucose tests, electromyography, orbicularis oculi reflexes and radiological investigation. In 3 cases a bilateral hypoplasia or scanty cellularization of the mastoid bone and a unilateral obtuse tip of the petrous part of the temporal bones were found. These findings may be a potential inherited etiologic factor.

Adult↗

PubMed1979

Inheritance of Indian childhood cirrhosis.

Detailed pedigree charts were prepared from 120 index patients suffering from Indian childhood cirrhosis (ICC). Of the 120 families, 84 were informative for segregation analysis. Since families were ascertained through patients who came to hospital for treatment, the data were analyzed according to a single-selection model. The observed segregation ratio for the entire data was significantly lower than the one expected under the hypothesis of autosomal recessive inheritance (p = smaller than 0.005). On the other hand, the segregation data for families with at least two affected children (multiplex families) were compatible with autosomal recessive inheritance. On this basis, however, at least 50% of all the cases of ICC would have to be of nongenetic origin. Alternatively, analysis of the data by the Falconer method indicated that ICC could be of multifactorial origin with very strong genetic determination (over 85%).

Age Factors↗

PubMed1984

Inherited factor V deficiency. Study of a Brazilian family.

Isolated Factor V deficiency is a very rare inherited coagulopathy. A genealogy of Brazilian Caucasians, where this disorder occurs, is reported. In this family, which was located because 2 affected individuals having the same surname were found by chance, the genealogical and laboratory data suggest an autosomal recessive pattern of inheritance. Nevertheless, the existence of deceased individuals who were reported as symptomatic seems to imply that some heterozygotes may present occasional bleeding episodes.

Adolescent↗

PubMed1992

Rare inherited bleeding disorders secondary to coagulation factors in Jordan: a nine-year study.

This work reports on rare inherited coagulation factors defects which were seen in a developing country over a 9-year period. There were a total of 30 cases which fulfilled this diagnosis. Fibrinogen abnormalities were the most frequently encountered. There were 10 patients with afibrinogenemia, 2 with hypofibrinogenemia and 1 case with dysfibrinogenemia. Factor XI deficiency was found in 7 patients, factor V and VII deficiencies accounted for 3 cases each. Factor X and XIII deficiencies were found in 2 patients each. All these rare deficiencies accounted for 10% of all inherited bleeding disorders in the population studied over 9 years.

Blood Coagulation Disorders↗

PubMed1982

Hereditary sideroblastic anaemia in 4 siblings of a Libyan family--autosomal inheritance.

Most of the hereditary sideroblastic anaemias are inherited as x-linked recessive traits and are often pyridoxine responsive. The present paper describes the classical features of sideroblastic anaemia in 2 male and 2 female siblings of a Libyan family. All 4 children had severe anaemia and moderate hepato-splenomegaly. The equal severity of the disease in all 4 family members suggests autosomal inheritance.

Anemia, Sideroblastic↗

PubMed1996

Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis.

Inherited resistance to activated protein C (APC) was recently discovered as a cause of familial thrombophilia and is now known to be the most common genetic risk factor for venous thrombosis. In a majority of cases, APC resistance is associated with a single point mutation in the factor V gene, which results in substitution of arginine (R) at position 506 by glutamine (Q) (FV:Q506). The mutation renders factor Va partially resistant to degradation by activated protein C (APC), which leads to a hypercoagulable state and a life-long 5-10-fold increased risk of venous thrombosis. The previously known inherited deficiencies of antithrombin, protein S or protein C, are in western societies together found in less than 10-15% of thrombosis patients, whereas APC resistance is present in 20 to 60% of the patients. A functional APC resistance test, which includes predilution of the patient plasma with factor V deficient plasma, is 100% sensitive and specific for the presence of FV:Q506. The FV:Q506 allele is common in populations of Caucasian origin (prevalence ranging between 1 and 15%), whereas it is not found in certain other ethnic groups such as in Japanese and Chinese. The thrombotic risk in individuals with APC resistant may be further increased by other genetic defects such as protein C or protein S deficiency and by exposure to circumstantial risk factors such as oral contraceptives, pregnancy, immobilisation and surgery.

Adolescent↗

PubMed1975

Further studies on the inheritance of responsiveness to pertussis HSF in mice.

Inheritance of responsiveness to histamine-sensitizing factor of pertussis bacilli (HSF) was investigated in (C3H/HeJ times C57BL/6J)F1 hybrids, backcross progeny of this hybrid to C57BJ/6J parent (C3H/HeJ times DBA/2J)F1 hybrids, and in backcross progeny of this hybrid to DBA/2J parent. It was found that transmission is not by virtue of a single autosomal dominant gene, as has been postulated. Rather, inheritance of responsiveness to HSF is far more complex, probably involving polygenic transmission.

Animals↗

PubMed1991

Caries susceptibility in inbred mouse strains and inheritance patterns in F1 and backcross (N2) progeny from strains with high and low caries susceptibility.

We studied dental caries susceptibility in various inbred mice strains infected with Streptococcus mutans and the inheritance pattern in the F1 and the N2 backcross animals. A high caries score was observed in four laboratory strains, BALB/cAJcl, C57BL/6NJcl, C57BL/10Slc and DBA/2NJcl. Three strains, C3H/HeNJcl, AKR/JSlc and CBA/JNCrj, showed less caries. Males of strain C57BL/10Slc (mean caries score = 112.2) and females of strain C3H/HeNJcl (mean caries score = 24.0) were chosen for examinations of the inheritance of the caries susceptibility. The mean caries score in (C57BL/10Slc x C3H/HeNJcl) F1 hybrids was 98.4, demonstrating that F1 progenies were susceptible. A number of N2 mice were obtained by mating the F1 male and the C3H/HeNJcl female. The caries scores of these N2 male mice had an extensive range, from 14 to 194. Assuming that a caries score over 74 (median of the scores between C57BL/10Slc and C3H/HeNJcl) belonged to the highly caries-susceptible group, N2 mice could be divided into groups with low or high caries susceptibility. Furthermore, the effect of nu/nu mutation on caries susceptibility in mice was also examined.

Analysis of Variance↗

PubMed1991

A family with acquired and inherited blue-yellow axis.

The pedigree of a family with a blue-yellow axis in the Farnsworth 100-Hue is reported. The fact that a blue-yellow axis corresponds to an inherited defect in 6 subjects and to an acquired defect in 1 subject is discussed. Methodological conditions necessary for making the differential diagnosis between an inherited and an acquired blue-yellow defect are recalled.

Adult↗

PubMed1991

5 alpha-metabolism in finasteride-treated subjects and male pseudohermaphrodites with inherited 5 alpha-reductase deficiency. A review.

Male pseudohermaphrodites (MPHs) with inherited 5 alpha-reductase deficiency and decreased dihydrotestosterone production have a global defect in 5 alpha-metabolism affecting both C19 androgen metabolism and C21 steroid metabolism. However, the decreased 5 alpha-reduction of testosterone to dihydrotestosterone is the only impaired steroid conversion to have clinical consequences, e.g., ambiguous genitalia, impaired prostate differentiation and development, and decreased facial and body hair. The 5 alpha-steroid metabolite profile in the MPHs was compared with that of men with benign prostatic hyperplasia who were administered varying doses of the 5 alpha-reductase inhibitor finasteride. Finasteride was found to be a potent inhibitor of both C19 androgen and C21 5 alpha-steroid metabolism affecting both hepatic and peripheral 5 alpha-metabolism. The 5 alpha-steroid metabolite profile was strikingly similar to that of MPHs with inherited 5 alpha-reductase deficiency. The data suggest that a 5 alpha-reductase gene codes for an enzyme with affinity for multiple steroid substrates.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗