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PubMedDate not supplied

Detection of fragile X non-penetrant males by DNA marker analysis.

Segregation analysis of the fragile-X [fra(X)] syndrome uncovered an unexpected 20% excess of normal males among sibships by Sherman et al. (Sherman SL, Morton NE, Jacobs PA, Turner G [1984]. Ann Hum Genet 48:21-37; Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Neilsen KB, Partington MW, Sutherland GR, Turner G, Watson M [1985]: Hum Genet 63:289-299). This result predicts that about 17% (1/6) of normal sons of carrier fra(X) females will be non-penetrant. A way to test this prediction is by DNA markers. We analyzed DNA samples from 100 families with a set of flanking DNA markers linked to the fra(X) locus. Ten of 51 (19.6%) normal brothers, doubly informative and non-recombinant for flanking DNA markers, were found to be non-penetrant males. This result closely confirms the predictions of the segregation analysis indicating that about 1/6 of normal brothers are non-penetrant carrier males. The use of DNA markers to identify non-penetrant brothers and grandfathers can help to clarify the inheritance of the fra(X) mutation and be of considerable clinical usefulness. Using DNA markers, it was possible to study grandparental transmission in 71 of the families. In 39 families, DNA analysis confirmed the apparent pattern of inheritance. In 18 families, the grandparents had a single daughter with affected children. Of these, a new mutation at the time of their daughters' conception was possible in 15 and quite likely in 3. In 14 families with 2 or more daughters with affected fra(X) offspring, the grandparents had no affected sons or other relatives known to be positive for fra(X).(ABSTRACT TRUNCATED AT 250 WORDS)

DNA↗
PubMed1992

Genetic control of diabetes mellitus.

Genetic inheritance predisposing individuals to diabetes mellitus was discussed in this work group. The two forms of the disease, Type 1 (insulin-dependent) and Type 2 (non-insulin-dependent) were discussed separately since the pattern of inheritance and genes involved appear to be distinctly different. Within these subtypes there is considerable genetic heterogeneity, and superimposed environmental factors confound the analysis. New technologies that will allow finer molecular analysis, as well as new candidates genes, were presented.

Animals↗
PubMed2001

Report of two cases with Van der Woude syndrome: a child and her mother.

Report of two cases with Van der Woude syndrome: a child and her mother: Congenital pits of the lower lip are rare malformations. They are closely associated with cleft lip (CL), cleft lip/palate (CL/CP) or isolated cleft palate (CP) and if so this condition is known as Van der Woude syndrome, which is inherited in an autosomal dominant fashion with high penetrance. Two individuals, one with lower lip pits and cleft palate and the other with isolated lower lip pit from the same family are described. Autosomal dominant pattern of inheritance was observed in this family and treatment consisted of complete removal of sinus tracts in one patient. Pathological features of sinus tracts consisted of stratified nonkeratinized squamous epithelium and a lamina propria of dense connective tissue. Importance of genetic counseling is emphasized as at least half of gene carriers have some kind of clefting.

Abnormalities, Multiple↗
PubMed2002

[Analysis of a family pedigree with primary shunt hyperbilirubinaemia].

OBJECTIVE: To identify whether primary shunt hyperbilirubinaemia is a genetic disorder or not and the pattern of the inheritance. METHOD: Clinical case data were studied with analysis of family pedigree of a case. RESULTS: Although the patient with primary shunt hyperbilirubinaemia presented an elevated unconjugated serum bilirubin, anemia and splenomegaly, the patient also presented decline of amount of peripheral white cells and normal amount of reticulocytes. The mature erythrocytes in peripheral blood and bone marrow were irregular in shape and size. There were also some target-, rod-, and mouth-shaped peripheral red cells in blood smear. With analysis of family pedigree, we can find that there were some patients with the primary shunt hyperbilirubinaemia in every generation of the family with equal distribution in male and female. The pattern of inheritance was transmitted from one generation to the next generation directly. Almost any manifestation of the disease may be found in adult patients, but the severity of the disorder was not the same among these patients. CONCLUSIONS: The primary shunt hyperbilirubinaemia is a genetic disease; its pattern of inheritance is autosomal dominant. It is suggested that the disease of primary shunt hyperbilirubinaemia could be renamed as hereditary shunt hyperbilirubinaemia.

Adult↗
PubMed1995

Alloreactive natural killer cells in the rat: complex genetics of major histocompatibility complex control.

A major role for the nonclassical major histocompatibility complex (MHC) class I region, i.e. RT1.C, in controlling rat natural killer (NK) cell alloreactivity has recently been established, and several findings suggested the existence of NK-triggering alloantigens coded for by this region. Here, we have extended our studies on the MHC control of NK cell cytotoxicity against concanavalin A-activated T cell blasts by comparing semi-syngeneic and fully allogeneic combinations, and we show the following: (a) The self MHC exerted a strong influence on the NK allorecognition repertoire. (b) When anti-F1 hybrid cytolytic activities of parental strain NK cells were measured, both recessively and non-recessively inherited susceptibility patterns emerged. (c) In most combinations parental strain cells were lysed by F1 hybrid NK cells, thus resembling the hybrid resistance phenomenon described in mice. The cytotoxicity was lower in strain combinations where NK susceptibility was inherited non-recessively, i.e. when parent anti-F1 reactivity was detected, than in recessive combinations. (d) LEW.1LM1 (RT1lm1) target cells, with a deletion in the RT1.C region that includes expressed class I genes, were more sensitive to lysis by MHC matched NK cells (PVG.1L(LEW), RT1l) than were parental LEW (RT1l) cells. The effect of the deletion was the opposite when MHC allogeneic (RT1c, RT1u) as well as semi-syngeneic (RT1l/c) NK cells were employed, i.e. sensitivity was decreased. We conclude that certain MHC-encoded antigens, depending on the haplotype combination of effector and target cells, may either trigger or inhibit rat NK cell cytotoxicity. Furthermore, the potential role of peptides bound to MHC class I molecules recognized by NK cells is discussed.

Alleles↗
PubMed1997

Genetic causes of bull infertility.

Infertility and anatomic defects unique to breeding bulls can be influenced by genetics. Veterinarians and animal breeders need to report disorders that may be inherited to a central recording agent, usually the breed association or a veterinary specialist interested in characterizing the disease. Occurrence of these defects is rare, and a large population of animals should be studied to recognize patterns of inheritance early. Numbers of affected animals in a given practice area are often limited, leading to an underestimation of the condition's importance. Genetic defects occur regularly at low frequencies. New syndromes continually arise and most are silently eliminated. Cooperation between cattle breeders, veterinarians, breed associations, and the scientific community is essential in controlling these diseases.

Animals↗
PubMed1988

Triphalangeal thumb.

Triphalangeal thumb (TPT), a rare malformation of uncertain pathogenesis, may occur as an isolated defect, in association with other malformations of the hands, or as a feature of a syndrome or sequence. Isolated TPT occurs in two functional types: opposable and non-opposable. The latter appears to be inherited as a simple autosomal dominant trait, while the former is generally sporadic. TPT is associated with a number of specific malformations of the hand or foot, several of which have a well documented autosomal dominant pattern of inheritance. TPT is a feature of a number of specific syndromes. In this setting it may be associated with radial hypoplasia, bone marrow dysfunction, congenital heart disease, lung hypoplasia or agenesis, anorectal malformations, sensorineural hearing loss, onychodystrophy, mental retardation, and other disorders. TPT serves as a useful marker in such patients; in conjunction with the clinical and radiological findings, it can help to establish the correct diagnosis, leading to appropriate management and genetic counselling.

Abnormalities, Multiple↗
PubMed1990

Mitochondrial defects of brain and muscle.

The brain and muscle are particularly vulnerable to mitochondrial defects as are the heart, kidney and liver. This hierarchy of organ involvement is reflected in the clinical signs and symptoms associated with these diverse encephalomyopathic syndromes. The biochemical correlates involve pyruvate metabolism, the citric acid cycle and the respiratory chain. Lactic acidosis is the metabolic signature in these diseases although not present in all syndromes, witness Leber hereditary optic neuropathy. Ragged-red fibers are equally distinctive in biopsied skeletal muscle but are present only with biochemical defects involving the respiratory chain. Defects of pyruvate metabolism and the citric acid cycle are inherited as autosomal or x-linked Mendelian traits. Respiratory chain defects may be inherited as Mendelian or maternal (non-Mendelian) traits. All mitochondria of the progeny are inherited from the mother; and all 13 polypeptides encoded by the mitochondrial genome are located in the respiratory chain (complexes I, III, IV and V). These biological principles are helpful in understanding the clinical syndromes and patterns of inheritance associated with the mitochondrial myopathies and encephalomyopathies.

Brain Diseases↗
PubMed2001

Generation of pedigree diagrams for web display using scalable vector graphics from a clinical trials database.

The standard method of studying inherited disease is to observe its pattern of distribution in families, that is, its pattern in a pedigree. For clinical studies focused on inherited disease, a pedigree diagram is a valuable visual tool for the display of inheritance patterns. We describe the creation of a web-based pedigree display module for Trial/DB, a Web accessible database developed at the Yale Center for Medical Informatics (YCMI) to support clinical research studies. The pedigree diagram is generated dynamically from the database. The icons representing each subject in the pedigree are selectable hyperlinks that will display detailed clinical data collected on the subject. Microsoft Active Server Page and Scalable Vector Graphics (SVG) are used to create the interactive pedigree diagrams.

Clinical Trials as Topic↗
PubMed2000

Family patterns of asthma, atopy and airway hyperresponsiveness: an epidemiological study.

BACKGROUND: The patterns of inheritance of asthma have largely been explored using data of symptom history collected by questionnaires which are subject to bias and which may therefore distort the measured relationship. OBJECTIVE: The purpose of this study was to examine family patterns of allergic disease using objective measurements of atopy and of airway hyperresponsiveness (AHR). METHODS: A large random sample of children aged 8-11 years was studied and 3 months later, their parents were also invited for study. Of the sample of 1655 children, both parents of 661 children were studied. In all subjects, respiratory illness history was measured by questionnaire, atopy by skin tests and AHR by responsiveness to histamine. RESULTS: The odds ratio for a child to have AHR if either parent had the same condition was approximately 2. 0, which was the same as the odds ratio for wheeze or diagnosed asthma in the presence of the same condition in either parent. The odds ratio for atopy was smaller (approximately 1.4, NS) but the risk of a nonatopic child having AHR if the parent had AHR was 3.0 (P = 0.01). The correlation between weal size in the child and parent was poor and the severity of AHR in the child was only modestly correlated with the severity of AHR in the parent (R = 0.51, P = 0.04). CONCLUSION: The use of objective measurements did not strengthen the association between atopic or asthmatic conditions in the parent and child, but did suggest that atopy and AHR are inherited independently.

Adult↗
PubMed1996

A familial disorder with duodenal atresia and tetralogy of Fallot.

We report on two sibs with tetralogy of Fallot (TOF) and duodenal atresia (DA). The first child, a 6-year-old girl, had a right facial palsy in addition to the TOF and DA. Her brother, age 10 months, was born with bilateral microtia without facial palsy. The children are the product of an apparently non-consanguineous union between clinically normal parents. The pertinent family history includes a paternal aunt with TOF and a cleft lip and palate who died in childhood and another paternal aunt with a supernumerary thumb. This family has anomalies found in several syndromes, but does not meet the diagnostic criteria for any of them. The genetic basis for this condition remains unknown, but the pattern of inheritance is likely either autosomal recessive, or autosomal dominant with variable expression and reduced penetrance. The pathogenesis is unknown, but either a disturbance in neural crest cell migration or familial predisposition to vascular disruption might explain this pattern of malformations.

Child↗
PubMed1976

Supergenes in polymorphic land snails. I. Partula taeniata.

The general colour of the shell in Partula taeniata is controlled by at least two loci. One of these (C) has a series of six alleles which determine the yellow (Y) and neutral brown (N) series of colours. Alleles for darker colours are dominant to those for lighter colours, but dominance is not always complete. The pink (P) colours are determined by a second locus (P) which modified the expression of the lighter alleles of the C locus. Orangeshell colour segregates with yellow but its allelic relationship is unknown. Colour of the lip is controlled by a locus (L) with pink lip dominant to white lip. The colour of the spire is determined by a locus (S) with dark (N4) spire dominant to light spire. An intermediate spire colour shows the same pattern of inheritance and may represent the effect of another allele. Banding of the shell is dominant to absence of bands, with two loci (B1 and B2) determining the type of banding. An allele at B1 produces the frenata pattern; an allele at B2 produces zonata; together they produce lyra. All the loci for which linkage data are available are linked so strongly that the whole array may be considered a supergene. Self-fertilisation takes place primarily during early reproductive life. About 20 per cent of the young of the first mating of an individual are produced by selfing, but over the whole reproductive span the frequency is only about 2-5 per cent. There is inconclusive evidence for heterozygote advantage of banded individuals.

Alleles↗
PubMed1978

Spondylothoracic dysostosis: report of two cases and review of the literature.

Two Puerto Rican infants, offsprings of nonconsanguineous parents, died with spondylothoracic dysostosis as characterized by widespread anomalies of the spine (malformed vertebral bodies including hemivertebrae), deformity of the thorax, and fan-like configuration of the ribs. The disease was lethal in early life in the 18 cases previously reported. An autosomal-recessive inheritance has been described. Spondylocostal dysostosis, a related entity, showed associated intrinsic anomalies of the ribs. The 17 cases culled from the literature pursued a milder course, affected mainly older children and adults, and had a different pattern of inheritance.

Adult↗
PubMed2005

The prima donna of epigenetics: the regulation of gene expression by DNA methylation.

This review focuses on the mechanisms of DNA methylation, DNA methylation pattern formation and their involvement in gene regulation. Association of DNA methylation with imprinting, embryonic development and human diseases is discussed. Furthermore, besides considering changes in DNA methylation as mechanisms of disease, the role of epigenetics in general and DNA methylation in particular in transgenerational carcinogenesis, in memory formation and behavior establishment are brought about as mechanisms based on the cellular memory of gene expression patterns.

Animals↗
PubMedDate not supplied

Fragile X mental retardation and the iduronate sulphatase locus: testing Laird's model of fra(X) inheritance.

Fragile X [fra(X)] mental retardation syndrome is the most frequent familial cause of mental handicap. The clinical phenotype is associated with a rare fragile site at Xq27.3. The mutation underlying the disorder, an insertion into the FMR-1 gene, has been characterized, but the pathogenesis of the condition is obscure and the pattern of inheritance is still not fully understood. One model of fra(X) pathogenesis was proposed by Laird in 1987, suggesting that the fra(X) mutation acts as a cis-acting, local block to the pre-oogenesis reactivation of the inactivated X chromosome. To test this model, we examined the activity of the F8, F9 and iduronate sulphatase (IDS) loci. The level of IDS in the serum of fra(X) males was found to be very significantly reduced in the fra(X) group when compared to that of control males: this lends support to Laird's model of fra(X) pathogenesis. However, we detected no methylation differences between fra(X) and control samples at the IDS locus, although such changes are known in fra(X) males at sites closer to the fragile site. Thus the mechanism of the reduction in IDS activity has not been identified.

DNA↗
PubMed1988

Mendelian and non-Mendelian inheritance of newly-arisen chromosome rearrangements.

Seven centric shifts and three reciprocal interchanges, all newly-arisen in natural populations, have been tested for their inheritance in the dioecious flowering plant Rumex acetosa. In backcrosses between the heterozygote and standard plants transmissions ranged from 0.36 to 0.85 per gamete for the novel chromosome. The inheritance of only four rearrangements correspond to Mendelian expectations while others exhibited either drive or drag. Drive was observed both through the egg and through the pollen indicating heterogeneity of mechanisms in the generation of non-Mendelian patterns of inheritance. This suggests that accumulation may play a significant role in the establishment of chromosomal variants in natural populations.

Chromosome Aberrations↗
PubMed1983

Familial cancer or cancer family syndrome. Report on a cancer family and consideration of genetic mechanisms.

We present a family with an unusually high incidence of cancer in four generations. Complete information could be obtained for the first three generations with 73 persons. Tumor incidence was 2/8 in the first generation, 14/22 in the second, and 11/44 in the third generation. A formal analysis, however, according to the four criteria of cancer family syndrome: increased frequency of adenocarcinomas of multiple anatomical sites, multiple primary malignant neoplasms, early age of onset, and autosomal dominant mode of inheritance, revealed that in this family multiple primaries are virtually absent and that tumors do not occur at a particularly early age. We therefore consider this family shows that familial clustering of tumors may follow an autosomal dominant pattern of inheritance even when the strict criteria of cancer family syndrome are not fulfilled. We conclude that the phenomenon of cancer families is not confined to one or two distinct clinical types.

Adenocarcinoma↗
PubMed1999

Two new cases of Cumming syndrome confirming autosomal recessive inheritance.

We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.

Abnormalities, Multiple↗

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