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PubMed1994

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

We have re-examined an extended myotonic dystrophy (DM) family, previously described in 1955, in order to study the long term effects of anticipation in DM and in particular the implications for families affected by this disease. This follow up study provides data on 35 gene carriers and 46 asymptomatic at risk family members in five generations. Clinical anticipation, defined as the cascade of mild, adult, childhood, or congenital disease in subsequent generations, appeared to be a relentless process, occurring in all affected branches of the family. The cascade was found to proceed asynchronously in the different branches, mainly because of an unequal number of generations with mild disease. The transition from the mild to the adult type was associated with transmission through a male parent. Stable transmission of the asymptomatic/mild phenotype showed a female transmission bias. We further examined the extent and causes of gene loss in this pedigree. Gene loss in the patient group was complete, owing to infertility of the male patients with adult onset disease and the fact that mentally retarded patients did not procreate. Out of the 46 at risk subjects in the two youngest generations, only one was found to have a full mutation. This is the only subject who may transmit the gene to the sixth generation. No protomutation carriers were found in the fourth and fifth generations. Therefore it is highly probable that the DM gene will be eliminated from this pedigree within one generation. The high population frequency of DM can at present not be explained by the contribution of asymptomatic cases in the younger generations of known families, but is probably caused by the events in the ancestral generations.

Adolescent↗
PubMed2005

Extended families and adolescent well-being.

PURPOSE: To examine the association between adolescent well-being and the presence of non-parental adults in the household. METHODS: The sample for this study was obtained from the 1995 National Longitudinal Study of Adolescent Health. The sample consists of adolescents who reside with parents and at least one non-parental adult. Non-parental adults include grandparents, aunts, uncles, cousins, and other relatives. Two measures of adolescent well-being are examined: depressive symptoms and deviant behavior. Regression analyses include controls for family structure, parent and child characteristics, and parent-child relations. RESULTS: The presence of grandparents in the household is associated with less deviant behavior overall, and fewer depressive symptoms among Blacks. The presence of other adults such as aunts, uncles, and other relatives is associated with greater depressive symptoms overall, but less deviant behavior among adolescents in households with large numbers of siblings. CONCLUSIONS: The association between extended families and adolescent well-being is not as straightforward as often assumed. Results point to the need for caution when discussing the benefits of such families as their impact varies with outcome of interest, the relationship to the child, and other characteristics within the family.

Adolescent↗
PubMed2005

Concordance of Helicobacter pylori infection among children in extended-family homes.

Helicobacter pylori is transmitted within households and high concordance is observed among siblings. To better understand the contributions of close interpersonal contact and family relatedness to transmission, we compared concordance of H. pylori infection among 241 sibling and non-sibling children aged 2-18 years in 68, predominantly low-income, Hispanic households with at least two nuclear families. Prevalence of H. pylori infection was 24%. Compared to children with no infected siblings or non-siblings and adjusting for age, odds of H. pylori infection were 1.2 (95% CI 0.52-2.9), 3.2 (95% CI 1.14-9.1), and 9.4 (95% CI 3.1-28.5) for children residing with at least one infected non-sibling, one infected sibling, and with at least one infected sibling and non-sibling, respectively. The study further implicates intersibling transmission as a pathway for H. pylori infection in childhood. In addition, living with a non-sibling in extended-family homes may contribute to infection risk but only in households with prevalent H. pylori infection within all family groups.

Adolescent↗
PubMed2004

Receipt of assistance and extended family residence among elderly men in Mexico.

This article focuses on help received by a nationally-representative sample of 2,376 Mexican men age 60+ in 1994. In the month before the interview, about one-half of the men received in-kind or domestic assistance, two-fifths received financial assistance, and about one-fourth received physical assistance. This was so even as almost half the men still worked, and over half (57%) had no discernable functional limitation. Using logistic regression, the study found support for the common assumption that living arrangements are an important predictor of assistance. Other factors are important too however. In fact, many elders received help from non-coresiding relatives. Beside financial remittances, help from non-coresiding relatives included in-kind, domestic, and physical assistance. Research on Mexico suggests that we need to revisit notions of a modified extended family in which non-coresidential ties can be important. Surveys need questions about frequency of contact and geographic distance between elderly people and their kin.

Activities of Daily Living↗
PubMed2005

Target gene discovery in extended families with type 2 diabetes mellitus.

Type 2 diabetes mellitus is a polygenic, multifactorial disease. Multiple attempts have been made to identify genes that predispose to development of diabetes using both the candidate gene approach and whole genome scanning. However, in spite of substantial financial commitment, very few targets have been identified. Identification of predisposing genes is complicated by several factors. Diabetic patients demonstrate a variety of gene defect combinations. Identification of predisposing genomic regions is thus impeded if data are collected from a heterogeneous population. In addition, the diseased phenotype may only manifest when the net effect of the predisposing factors exceeds a certain "threshold". The effects of predisposing genetic and environmental factors thus appear to be additive, and this also complicates target gene discovery. Using the traditional approach, significant associations between genomic regions and disease are rarely observed unless data are acquired from hundreds of individuals. In contrast, results from whole genome scans performed in homogeneous and consanguineous populations with a high incidence of type 2 diabetes have demonstrated that highly significant associations can be obtained using data from a small number of subjects belonging to the same extended family. Such populations offer the promise of substantial progress in type 2 diabetes genomics research.

Diabetes Mellitus, Type 2↗
PubMed1998

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest.

Febrile convulsions are a common form of childhood seizure. It is estimated that between 2 and 5% of children will have a febrile convulsion before the age of 5. It has long been recognized that there is a significant genetic component for susceptibility to this type of seizure. Wallace, Berkovic and co-workers recently reported linkage of a putative autosomal dominant febrile convulsion gene to chromosome 8q13-21. We report here another autosomal dominant febrile convulsion locus on chromosome 19p. Linkage analysis in this large multi-generational family gave a maximum pairwise lod score of 4.52 with marker Mfd120 at locus D19S177. Linkage to the chromosome 8 locus was excluded in this family. Haplotype analysis using both affected and unaffected family members indicates that this febrile convulsion gene, which we call FEB2 , can be localized to an 11.7 cM, 1-2 Mb section of chromosome 19p13.3, between loci D19S591 and D19S395.

Chromosome Mapping↗
PubMed1984

Congenital pernicious anemia: report of seven patients, with studies of the extended family.

Seven children ages 1 1/2 to 12 years with congenital pernicious anemia were detected in an extended Mexican family. All affected children had megaloblastic anemia accompanied by low serum B12 and normal serum folate levels. Gastric fluid analysis in six patients revealed normal gastric acidity and absent intrinsic factor. Serum antibodies to intrinsic factor or parietal cells were also absent. Schilling tests performed in six of the seven patients yielded abnormal results. Of the three patients in whom gastric biopsy was done, two had normal histologic findings (including examination by electron microscopy) and one had mild atrophy. All patients responded rapidly to parenterally administered vitamin B12 therapy. In addition, 170 family members were screened for the defect with complete blood counts and serum B12 levels. Such screening detected pernicious anemia in two of the children, but no other abnormalities that could be attributed to pernicious anemia were found in other family members. Based on the family pedigree, autosomal recessive inheritance is likely. The variability of age of presentation in this family is noteworthy and suggests that expression may be modified by still undefined factors.

Anemia, Pernicious↗
PubMed1993

Privacy beliefs and the violent family. Extending the ethical argument for physician intervention.

Privacy beliefs associated with the family impede physicians' response to domestic violence. As a private sphere, the family is regarded as sacred, separate, and hidden from public view. Hence, physicians who look for or uncover violence in the family risk defilling a sacred object and violating norms of non-interference. Privacy beliefs also obfuscate the ethical analysis of physicians' duties to intercede on behalf of battered patients. Ethical principles of beneficence and nonmaleficence have been invoked to justify physicians' duties to abused patients; however, the principle of justice has not been invoked. Ethical analysis of physicians' duties in this area must be broadened to include the principle of justice. Justice is at stake because establishing conditions favorable to self-respect is a requirement of justice, and the response physicians make to battered patients carries important ramifications for supporting patients' self-respect and dignity. If justice forms part of the ethical foundation for physician intervention in domestic violence, mandatory steps that do not transgress the confidentiality of the physician-patient relationship or infringe the patient's autonomy should be taken, such as requiring domestic violence training in medical education and following treatment plans and protocols to identify abuse and provide assistance to battered patients.

American Medical Association↗
PubMed1990

Application of DNA fingerprinting to parentage and extended family relationship testing.

For the purpose of applying DNA fingerprinting to parentage or other extended blood relationship testing, we have developed a general system for estimating blood relationship between a set of individuals. This system can be used for any blood relationship testing, even if critical family members are unavailable. A general formula for calculating the probability of such relationships based on Bayes' theorem has been devised and the ability of DNA fingerprinting produced by Jeffrey's polycore probe to determine the relationships has been evaluated.

Bayes Theorem↗
PubMed2005

Mixed-effects Cox models of alcohol dependence in extended families.

The presence of disease is commonly used in genetic studies; however, the time to onset often provides additional information. To apply the popular Cox model for such data, it is desirable to consider the familial correlation, which involves kinship or identity by descent (IBD) information between family members. Recently, such a framework has been developed and implemented in a UNIX-based S-PLUS package called kinship, extending the Cox model with mixed effects and familial relationship. The model is of great potential in joint analysis of family data with genetic and environmental factors. We apply this framework to data from the Collaborative Study on the Genetics of Alcoholism data as part of Genetic Analysis Workshop 14. We use the S-PLUS package, ported into the R environment http://www.r-project.org, for the analysis of microsatellite data on chromosomes 4 and 7. In these analyses, IBD information at those markers is used in addition to the basic Cox model with mixed effects, which provides estimates of the relative contribution of specific genetic markers. D4S1645 had the largest variance and contribution to the log-likelihood on chromosome 4, but the significance of this finding requires further investigation.

Alcoholism↗
PubMed1996

Psychiatric diagnoses in the child and adolescent members of extended families identified through adult bipolar affective disorder probands.

OBJECTIVE: To investigate the type and distribution of psychiatric disorders in the child and adolescent members of extended pedigrees identified through bipolar probands. METHOD: The child and adolescent offspring (24 male, 26 female, aged 6 to 17 years) and the adult parents (60) of 14 bipolar pedigrees ascertained for the National Institutes of Mental Health Genetics Initiative Study of Bipolar Affective Disorder were personally assessed using structured psychiatric interviews. A parent was also interviewed about each child or adolescent offspring. RESULTS: Twelve of the 50 interviewed offspring received a lifetime DSM-III-R diagnosis of an affective disorder. This included six cases of bipolar disorder, five cases of major depressive disorder, and one case of dysthymia. Eight of the offspring who received an affective disorder diagnosis also qualified for an anxiety disorder (four), a disruptive behavior disorder (two), or both (two). Offspring who had a parent with an affective disorder had a 5.1-fold higher risk for receiving an affective disorder diagnosis than did offspring with healthy parents. CONCLUSIONS: In a consecutive series of families identified through a proband with bipolar disorder, there were significant increases in the prevalence of affective disorder diagnoses in the child and adolescent offspring. The distribution of illness in offspring was compatible with the presence of important genetic factors which contribute to early-onset affective illness.

Adolescent↗
PubMed1994

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

Charcot-Marie-Tooth disease type 1 (CMT1) or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most families the disease segregates with a 1.5 Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with point mutations in the PMP-22 gene. In some families linkage has been found with markers located on chromosome 1q21-q25 (CMT1B) and more recently mutations have been identified in the P0 gene. We analysed an extended CMT1 pedigree (CMT-B) without the CMT1A duplication. Significant positive linkage with chromosome 1 indicated that this family is of the CMT1B subtype. Sequencing of the candidate gene P0 located in chromosome band 1q21-q23 showed a C to A point mutation at position 446 in exon 3 resulting in an Asp134Glu substitution. Since the P0 mutation cosegregated with CMT1 disease we suggest that this mutation is the primary genetic cause of CMT1B in family CMT-B.

Adult↗
PubMed1999

Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.

BACKGROUND/AIMS: The development of colorectal cancer and a variable range of extracolonic manifestations in familial adenomatous polyposis (FAP) is the result of the dominant inheritance of adenomatous polyposis coli (APC) gene mutations. In this study, direct mutation analysis of the APC gene was performed to determine genotype-phenotype correlations for nine extracolonic manifestations and to investigate the incidence of APC mutations in non-FAP colorectal cancer. METHODS: The APC gene was analysed in 190 unrelated FAP and 15 non-FAP colorectal cancer patients using denaturing gradient gel electrophoresis, the protein truncation test, and direct sequencing. RESULTS: Chain terminating signals were only identified in patients belonging to the FAP group (105 patients). Amino acid changes were identified in four patients, three of whom belonged to the non-FAP group of colorectal cancer patients. Genotype-phenotype correlations identified significant differences in the nature of certain extracolonic manifestations in FAP patients belonging to three mutation subgroups. CONCLUSIONS: Extended genotype-phenotype correlations made in this study may have the potential to determine the most appropriate surveillance and prophylactic treatment regimens for those patients with mutations associated with life threatening conditions. This study also provided evidence for the pathological nature of amino acid changes in APC associated with both FAP and non-FAP colorectal cancer patients.

Adenomatous Polyposis Coli↗
PubMed1995

Increased structural and combinatorial diversity in an extended family of genes encoding Vlp surface proteins of Mycoplasma hyorhinis.

Variable lipoproteins (Vlp) constitute the major coat protein of Mycoplasma hyorhinis. They are products of multiple, divergent, single-copy genes organized in a chromosomal cluster. Three genes, vlpA, vlpB, and vlpC, have been previously identified in clonal isolates of M. hyorhinis SK76. Each is linked to a characteristic promoter region containing a homopolymeric tract of adenine residues [poly(A) tract], subject to hypermutation, that transcriptionally controls phase variation of vlp genes and leads to combinatorial surface mosaics of distinct Vlp products. The size of the natural vlp gene repertoire is unknown but may critically determine the degree of structural and combinatorial diversity available in this species. In this study, the vlp repertoire of M. hyorhinis GDL-1 was characterized and shown to contain three additional genes, vlpD, vlpE, and vlpF, clustered with other known vlp genes in the order 5'-vlpD-vlpE-vlpF-IS-vlpA-IS-vlpB-vlpC+ ++-3', where IS represents copies of the IS1221 element of M. hyorhinis. The 5' boundary of this expanded family was identical to that of the more limited family 5'-vlpA-IS-vlpB-vlpC-3' previously described in a clonal isolate of strain SK76. A recombinant construct containing vlpD, vlpE, and vlpF expressed antigenically distinguishable products corresponding to each gene. These genes encode characteristic C-terminal repetitive regions that are subject to size variation by insertion or deletion of intragenic repeats but maintain an extended, charged structure. Each vlp gene also contained characteristic alternative open reading frames, which provide a potential reservoir of coding sequence for Vlp diversity, possibly recruited through insertion and/or deletion mutations. These findings demonstrate a vastly expanded potential for structural diversity and combinatorial display of surface mosaics on this organism and suggest that modulation of the vlp repertoire, possibly in conjunction with mobile elements, may determine the capacity for surface variation in natural populations and laboratory strains of this mycoplasma species.

Amino Acid Sequence↗