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PubMed1995

Smooth pursuit eye movement differences between familial and non-familial schizophrenia.

Disrupted smooth pursuit eye tracking characterizes a greater proportion of individuals with schizophrenia than in the normal population. The finding of a similar increased incidence of eye tracking abnormality in first degree relatives of schizophrenics implicates this disorder as a potential biological marker for schizophrenia. To test the assumption that the eye tracking dysfunction of schizophrenics is genetically related, left and right smooth pursuit gain and phase shift were compared between 20 schizophrenics with a family history of schizophrenia or schizophrenia-related disorders, 18 schizophrenics without a family history, as well as for 18 normal controls. Subjects tracked pendular targets on an LED light bar moving at frequencies of 0.2 and 0.7 Hz. Horizontal eye movements were recorded using DC-electro-oculography. Results indicate that schizophrenics with a positive family history had significantly reduced right pursuit gain compared with controls, while right gain for negative family history schizophrenics did not differ from either group. Schizophrenic subjects also were administered neuropsychological tests. Linear regression by groups analyses reveal that neuropsychological measures significantly predicted right gain to slower targets (0.2 Hz) for the positive family history schizophrenics, but not for negative family history schizophrenics.

Adolescent↗
PubMed2006

Re-evaluation of the chicken MIP family of chemokines and their receptors suggests that CCL5 is the prototypic MIP family chemokine, and that different species have developed different repertoires of both the CC chemokines and their receptors.

Analysis of the chicken genome has shown that the chicken has a different repertoire of chemokines and chemokine receptors to those of mammals and other species. In this study, we report the sequencing and analysis of a bacterial artificial chromosome containing the entire chicken MIP family CC chemokine cluster. The gene duplication and divergence events that have taken place in mammals do not appear to have occurred as extensively in the avian lineage, as chickens possess fewer MIP family chemokine genes than humans or mice. We previously proposed that the four chicken MIP family members be named chicken (ch) CCLi1-4, according to their position on chicken chromosome 19, until such time as further analysis could determine if any of them were direct orthologues of mammalian MIP family members. Our analysis herein, combined with that of others, suggests that chCCLi4 is the orthologue of mammalian CCL5, and that chCCLi3 (K203) may be an orthologue of human CCL16. The other two chemokines do not have obvious orthologues, and thus we propose that they should still be called chCCLi1 and chCCLi2, until their biological function is further characterised. A similar pattern applies to the MIP family chemokine receptors, with only three receptor genes present at the relevant locus in the chicken genome, compared to four in man and mouse (CCR1, CCR2, CCR3 and CCR5). Of the three chicken receptor genes, only two look likely to be receptors for the MIP family chemokines, the third grouping with human, mouse and chicken CCR8 in phylogenetic analysis. The two chicken MIP CC receptors (CCRs) are not direct orthologues of the mammalian MIP CCRs.

Amino Acid Sequence↗
PubMed2005

Discovery of an MIT-like atracotoxin family: spider venom peptides that share sequence homology but not pharmacological properties with AVIT family proteins.

This project identified a novel family of six 66-68 residue peptides from the venom of two Australian funnel-web spiders, Hadronyche sp. 20 and H. infensa: Orchid Beach (Hexathelidae: Atracinae), that appear to undergo N- and/or C-terminal post-translational modifications and conform to an ancestral protein fold. These peptides all show significant amino acid sequence homology to atracotoxin-Hvf17 (ACTX-Hvf17), a non-toxic peptide isolated from the venom of H. versuta, and a variety of AVIT family proteins including mamba intestinal toxin 1 (MIT1) and its mammalian and piscine orthologs prokineticin 1 (PK1) and prokineticin 2 (PK2). These AVIT family proteins target prokineticin receptors involved in the sensitization of nociceptors and gastrointestinal smooth muscle activation. Given their sequence homology to MIT1, we have named these spider venom peptides the MIT-like atracotoxin (ACTX) family. Using isolated rat stomach fundus or guinea-pig ileum organ bath preparations we have shown that the prototypical ACTX-Hvf17, at concentrations up to 1muM, did not stimulate smooth muscle contractility, nor did it inhibit contractions induced by human PK1 (hPK1). The peptide also lacked activity on other isolated smooth muscle preparations including rat aorta. Furthermore, a FLIPR Ca2+ flux assay using HEK293 cells expressing prokineticin receptors showed that ACTX-Hvf17 fails to activate or block hPK1 or hPK2 receptors. Therefore, while the MIT-like ACTX family appears to adopt the ancestral disulfide-directed beta-hairpin protein fold of MIT1, a motif believed to be shared by other AVIT family peptides, variations in the amino acid sequence and surface charge result in a loss of activity on prokineticin receptors.

Amino Acid Sequence↗
PubMed2002

Iterative database searches demonstrate that glycoside hydrolase families 27, 31, 36 and 66 share a common evolutionary origin with family 13.

Classification of glycoside hydrolases (GHs) into families, along with the structure-based grouping together of families into clans, improve our understanding of the evolution of the large natural variety of these enzymes, help rationalise experimental data and guide further studies. Here we identify triose phosphate isomerase (TIM) barrels in GH families 27, 31, 36 and 66. We further show that iterated sequence database searches provide evidence for their sharing a common evolutionary origin with GH family 13. The catalytic, nucleophilic residue common to all these families is thereby determined and candidate catalytic proton donors identified within each family.

Aspartic Acid↗
PubMed1998

Familial renal oncocytoma: clinicopathological study of 5 families.

PURPOSE: We analyzed familial renal oncocytoma to provide a foundation for studies aimed at defining genes involved in the pathogenesis of renal oncocytoma. MATERIALS AND METHODS: We describe 5 families with multiple members affected with renal oncocytoma. Tumors were analyzed pathologically, and affected and nonaffected members were screened clinically and genetically. RESULTS: We identified 12 affected male and 3 affected female (ratio 4:1) individuals in the 5 families. In affected family members renal oncocytomas were often multiple and bilateral. No metastatic disease was observed. Most renal oncocytomas were detected incidentally in asymptomatic individuals or during screening of asymptomatic members of renal oncocytoma families. One identical twin pair was affected with bilateral multiple renal oncocytomas. CONCLUSIONS: Renal oncocytoma may be inherited in some families.

Adenoma, Oxyphilic↗
PubMed2005

Familial clustering in burnout: a twin-family study.

BACKGROUND: Research on risk factors for burnout has mainly focused on circumstances at work and on personal characteristics. The aim of this study was to investigate whether burnout clusters within families and, if so, whether this is due to genetic influences or to environmental factors shared by family members. Finally, we tried to identify specific risk factors for burnout. METHOD: In 2707 twins, 736 of their siblings and 575 of their spouses from a population-based twin-family sample, burnout was measured using a self-report questionnaire. Correlations in burnout scores were obtained for monozygotic and dizygotic twin pairs and sibling pairs conditional on the pairs' sex. Correlations for twins and their spouses were derived conditional on the length of the relationship. RESULTS: In the final model, correlations of the monozygotic and dizygotic twin pairs and sibling pairs were significantly different from zero, but not significantly different from each other. The correlation was estimated at 0.22. The correlation between spouses was also significant. This was mainly due to the group with a relationship longer than 5 years in which the correlation was 0.24. Burnout scores were higher in subjects whose parents had a high level of education. CONCLUSIONS: There is familial clustering for burnout due to environmental factors shared by family members, explaining 22 % of the variance. Genetic factors do not seem to be of importance. The significant correlation between spouses supports the conclusion that common environment plays a role in burnout. A high parental education is one of the familial risk factors.

Adolescent↗
PubMed2003

Intergenerational communication across cultures: young people's perceptions of conversations with family elders, non-family elders and same-age peers.

Young adults from three Western (Canada, U.S.A., and New Zealand) and three East Asian (The Philippines, South Korea and Japan) nations completed a questionnaire regarding their perceptions of interactions with family elders, non-family elders, and same-age peers. Results showed that East Asians perceived family elders to be as accommodating as same-age peers, whereas Westerners perceived family elders as more accommodating than their same-age peers. Participants in both cultural blocks indicated an obligation to be most deferential towards non-family elders, followed by family elders, followed by same-age peers. Whereas both groups perceived interactions with same-age peers more positively than with the two older groups, the Western group perceived the older age groups more positively than did East Asians. Intergenerational communication is reportedly be more problematic than intragenerational communication and, consistent with previous findings, this pattern is more evident in East Asian nations on some variables.

Adult↗
PubMed2004

HBV infection and familial aggregation of liver cancer: an analysis of case-control family study.

OBJECTIVES: Hepatitis B virus (HBV) infection is one of the most important risk factors for hepatocellular carcinoma (HCC). The specific aim of this study is to assess the influence of HBV infection on familial aggregation of HCC. METHODS: We conducted a population-based case-control family study of liver cancer in Taixing, China, in 2001-2002, with a total of 3611 individuals from 202 case families and 202 control families. Conditional logistic regression was used for the case-control data. The approach of GEE2 was used to analyze the family data and age and sex were adjusted in all marginal regression models. RESULTS: The odds ratio for HBV associated with HCC was 41.39 (95% confidence interval (CI): 23.03-74.30). The relatives of cases had a higher risk of liver cancer compared with the relatives of controls with a conditional odds-ratio of 3.06 (95% CI: 1.48-6.33). The association parameters among first- and second-degree relatives were no longer statistically significant when HbsAg was taken into consideration. CONCLUSION: HBV infection was likely a main reason for the familial aggregation of liver cancer in Southern China.

Adult↗
PubMed2000

Familial aggregation of blood pressure: a population-based family study in eastern Finland.

Blood pressure (BP) levels in the Finnish population are amongst the highest in the world, despite favourable changes at the national level in the past two decades. The study evaluates the familial aggregation of BP and the association of some environmental factors to the familial aggregation of BP as a primary epidemiological approach of the genetics of hypertension in a sample of families with young offspring from eastern Finland. Offspring aged 15 years were examined between 1996 and 1997 and their biological parents were examined between 1993 and 1994. A total of 224 children were invited, 184 families participated, from which 144 were included in the analysis with complete data. Systolic (SBP), diastolic (DBP) and mean (MAP) arterial BPs were the main outcome measurements. After the offspring's gender and body mass index (BMI) and the parent's age and BMI were controlled for, the mother/offspring correlation of SBP and the father/offspring correlation of MAP were statistically significant (r = 0.18, P = 0.039, n = 134 and r = 0.20, P = 0.048, n = 99, respectively). The additional adjustment for the parent's education and family history of acute myocardial infarction did not change these results. There was a higher proportion of offspring in the highest quartile of SBP and MAP when the mother had a history of hypertension (OR = 3.4, 95% CI = 1.4-8.5, n = 139, and OR = 2.6, 95% CI = 1.0-6.5, n = 139, respectively). The study confirmed the familial aggregation of BP. The consistent BP association between the mother and the offspring may indicate the key role of the mother in the primary prevention of hypertension.

Adult↗
PubMed1999

Familial multiple myeloma: report of fifteen families.

To further define the frequency, clinical and biological features of familial multiple myeloma we performed a retrospective study of related patients who presented with multiple myeloma. Most cases of familial multiple myeloma were observed in siblings (10/15), in whom the mean age at diagnosis was similar to unrelated multiple myeloma. In successive generations the mean age at diagnosis was lower. Monoclonal component was identical (IgG kappa) in seven families. Familial history of monoclonal gammopathy of undetermined significance was observed in three families. Five other prospective studies of 1263 patients identified four affected families (3.2 per 1000 cases of multiple myeloma), and raise the question of a genetic background in multiple myeloma.

Adult↗
PubMedDate not supplied

Therapeutic use of parental stories to enhance Mexican American family socialization: family transition to the community school system.

An ethnographic study was carried out in Hidalgo County, Texas, among 23 Mexican American families to field-test a methodology of using parental stories to enhance family socialization when a firstborn child enters the community school system. Thirteen of the 23 families shared their parental concerns about the child beginning school in audio-taped interviews in 1998. In 1999, the investigator assessed the parental concerns of the remaining 10 families who were about to have their children enter the school system. The investigator elicited parental stories of how the 13 experienced families managed their parental concerns during 1998, transcribed 65 parental stories verbatim, and shared the parental stories that addressed the specific concerns of each of the 10 inexperienced families. The assessment showed the stories addressed concerns that were similar, the inexperienced parents acquired new ways of managing their parental concerns, and their overall concern was lessened as a result of listening to the stories.

Adult↗
PubMed2002

Benign familial infantile convulsions: a clinical study of seven Dutch families.

Benign familial infantile convulsions (BFIC) is a recently identified partial epilepsy syndrome with onset between 3 and 12 months of age. We describe the clinical characteristics and outcome of 43 patients with BFIC from six Dutch families and one Dutch-Canadian family and the encountered difficulties in classifying the syndrome. Four families had a pure BFIC phenotype; in two families BFIC was accompanied by paroxysmal kinesigenic dyskinesias; in one family BFIC was associated with later onset focal epilepsy in older generations. Onset of seizures was between 6 weeks and 10 months, and seizures remitted before the age of 3 years in all patients with BFIC. In all, 29 (67%) of the 43 patients had been treated with anti-epileptic drugs for a certain period of time. BFIC is often not recognized as (hereditary) epilepsy by the treating physician. Seizures often remit shortly after the start of anti-epileptic drugs but, because of the benign course of the syndrome and the spontaneous remission of seizures, patients with low seizure frequency do not necessarily have to be treated. If prescribed, anti-epileptic drugs can probably be withdrawn after 1 or 2 years of seizure freedom.

Electroencephalography↗
PubMed1999

Benign infantile familial convulsions: natural history of a case and clinical characteristics of a large Italian family.

We present a patient (3 months old) with partial and generalized seizures who has a family history of seizures with a onset during the first 12 months of life. We diagnosed benign infantile familial convulsions (BIFC) and we did not introduce any antiepileptic therapy. We present clinical data of her family where 18 out of 35 members were affected; to our knowledge this is the largest family with BIFC. BIFC is transmitted as an autosomal dominant trait; recently it has been reported that the gene for BIFC maps to the long arm of chromosome 19. We conducted linkage analysis in our family providing significant exclusion of linkage between the BIFC locus phenotype and chromosome 19 markers, suggesting that a second locus is involved in this family.

Child, Preschool↗
PubMed1983

Kpn I family of long interspersed repeated DNA sequences in primates: polymorphism of family members and evidence for transcription.

An approximately equal to 2-kilobase-pair-long member (Kpn I-LS1) of the African green monkey Kpn I family of repeated sequences has been cloned, subjected to sequence analysis, and compared to other family members which are over 6 kilobase pairs (Kpn I-alpha 7) and 829 base pairs (Kpn I-RET) long. Both Kpn I-LS1 and Kpn I-RET lack sequences found at the ends of the longer family member and their structures resemble those of processed genes. Kpm I-LS1 sequences are colinear with part of the long family member, Kpn I-alpha 7. However, although all sequences in Kpn I-RET are represented in Kpn I-LS1, the two are not colinear; Kpn I-RET is missing 731 base pairs found in Kpn I-LS1 and one segment flanking the deletion is inverted. The results demonstrate that Kpn I family members are not only of different lengths but may also contain scrambled arrangements of common sequences. Sequences in Kpn I-LS1 hybridize to RNA from monkey and human cells, indicating that some family members are transcribed.

Animals↗
PubMed2001

Familial occurrence of microscopic colitis: a report on five families.

BACKGROUND: The etiology and pathogenesis of microscopic colitis is unknown. Whether genetic predisposition is of importance, as in many other gastrointestinal diseases, is unknown. Familial occurrence of collagenous colitis has earlier been reported only in two families. METHODS: Familial occurrence of microscopic colitis was searched for in a Swedish national microscopic colitis register. RESULTS: Familial occurrence of microscopic colitis was identified in five families. In all families a sister-sister relationship was found. Two sisters with collagenous colitis had been living apart in different Nordic countries for many years before developing the disease. In one pair, the smoking sister had collagenous colitis and the never smoking sister had lymphocytic colitis. CONCLUSIONS: Considering the relative rarity of microscopic colitis, these findings indicate that a genetic predisposition may be of importance.

Adult↗
PubMed1990

Familial resemblance for cognitive abilities in families with P-type dyslexic, L-type dyslexic, or normal reading boys.

P-type dyslexic, L-type dyslexic, and normal reading boys, and their parents were administered a number of cognitive tasks. The P- and L-type dyslexic boys showed impaired performances on tasks representing a verbal/memory dimension. In addition, L-type dyslexics performed worse on a figure-rotation task, a result that supported the notion of a visuospatial deficit in this type of reading disturbance. The parents of P- and L-type dyslexics exhibited lowered performances on verbal/memory tasks, but they showed no evidence of impaired visuospatial functioning. Indices of familial resemblance revealed differential familial resemblances in the three types of families. In the families of P-type dyslexics, a high father-son effect was found for the visuospatial dimension. In the families of L-type dyslexics, moderately high single-parent/child effects were found for both fathers and mothers and for both the verbal/memory dimension and the visuospatial dimension. In the families of normal readers, only small single-parent/child effects were found.

Aptitude↗
PubMedDate not supplied

Family resemblance in body circumferences and their ratios: the Nancy family study.

The purpose of this study was to investigate the familial resemblance for individual body circumferences (suprailiac, waist, thigh and arm) and for the waist/suprailiac (as surrogate for the waist/hip) and the waist/thigh circumference ratios, in a sample of 216 unselected nuclear families with children aged 10-25 years. Familial correlations were jointly computed, using the maximum-likelihood method. The highest familial resemblance was observed for the waist circumference and for the waist/suprailiac and the waist/thigh circumference ratios. There was no significant difference between father-offspring and mother-offspring correlations when considering individual body circumferences. In contrast, when considering the two ratios there was a stronger mother-child than father-child similarity. Furthermore, there was a higher resemblance of the mother with her daughter than with her son, but no significant sib sex difference in the father-offspring relationship. There was also a heterogeneity of sibling correlations for the two ratios, the like-sex pairs exhibiting higher correlations than the unlike-sex pairs. Lastly, the similarity observed between spouses, of similar magnitude to the father-offspring correlation, suggests the contribution of environmental rather than genetic factors for explaining the familial resemblance of the two ratios. In conclusion, the great family resemblance for the waist/suprailiac and the waist/thigh circumference ratios (correlations ranging from 0.23 to 0.68) appears remarkable, and should be taken in consideration, given the predictive value of these indices for disease in adulthood.

Adolescent↗
PubMed1982

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

The clinical features of 11 families containing 73 individuals with dominantly inherited cerebellar ataxia of late onset are described. Many of the patients had physical signs in addition to cerebellar ataxia, which included dementia, supranuclear ophthalmoplegia, extrapyramidal dysfunction, optic atrophy, pigmentary retinal degeneration, myoclonus and deafness. These associated features were generally very variable within members of the same family. Intrafamilial correlation of age of onset and an analysis of clustering of clinical features within families using X2 tests suggested that there was little evidence of genetic heterogeneity in the eight kindreds where ophthalmoplegia, optic atrophy, dementia, or extrapyramidal signs were found in affected individuals. One of these families contained descendants of the 'Drew family of Walworth' described by Ferguson and Critchley in 1929. The three other families contained patients with clinically distinct syndromes which were: cerebellar ataxia with pigmentary retinal degeneration; a later onset (over 60 years) 'pure' cerebellar syndrome; and an ataxia disorder associated with myoclonus and deafness. A simple classification of the autosomal dominant cerebellar ataxias is proposed and discussed in relation to previous attempts to classify these disorders on clinical and pathological grounds.

Adult↗