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1.
The diversity between Streptococcus mutans clinical isolates from 5-year-old children and their mothers in two South African ethnic groups was investigated. The gtfB gene encoding for glucosyltransferase (EC 2.4.1.5), an enzyme responsible for the synthesis of extracellular polysaccharides was characterized by PCR-RFLP with HaeIII restriction enzyme digestion. Forty-seven children were examined for dental caries and 128 S. mutans clinical isolates cultured from samples of their saliva and plaque and from the saliva of their mothers. Thirty-three children had active caries (70%) and the remainder (n = 14) were caries-free. Caries prevalence was significantly different (p = 0.02) between black African and coloured children, but no differences were found between gtfB amplitypes by caries or ethnic grouping. Thirty-four (27%) of the S. mutans clinical isolates investigated did not ferment melibiose. Melibiose-negative phenotypes (n = 10) isolated from four families showed gtfB RFLP patterns identical to each other. Mothers and children harboured between one and three amplitypes. GtfB amplitypes were identical in 17 families (17/47), of which nine only were identical to S. mutans reference strains. The percentage match between S. mutans amplitype from mothers and their children was low (13%) in the caries-free group compared to children with caries (44%). RFLP analysis of the gtfB gene showed the diversity of S. mutans genotypes within two South African populations that were acquired from mothers and other sources. 相似文献
2.
Olle Olerup Holger Luthman E. Martin Ritzén Barbro Haglund-Stengler 《Human genetics》1990,85(5):467-472
Summary The possibility of using TaqI restriction fragment length polymorphism (RFLP) analysis of the HLA-B locus and the HLA-DR-DQ subregions, flanking the 21-hydroxylase genes, for predicting disease in siblings of children with 21-hydroxylase deficiency was analyzed in 12 nuclear families with at least one affected child and a total of 18 at-risk off-spring. As part of the study allelic TaqI HLA-B RFLP patterns were determined in homozygous cell lines and families. The frequencies of individuals homozygous for TaqI allelic patterns of the different investigated HLA loci, each locus alone and in various combinations, were determined in 100 random controls. In all 12 families it was possible to make correct genetic diagnosis by the use of only one restriction enzyme, TaqI, and two locus-specific HLA cDNA probes, HLA-B and -DRB. In all families four haplotypes were obtained. Thus, affected siblings as well as carriers could be identified. Seven of the eight sibling pairs concordant for 21-hydroxylase deficiency had pairwise identical TaqI HLA-B-DRB-DQA-DQB haplotypes. The last disease-concordant sibling pair had inherited different haplotypes from their mother, who had nonclassical 21-hydroxylase deficiency. None of the ten healthy children shared both haplotypes with their affected sibling(s). Early prenatal suppression of the fetal adrenal cortex with fluorinated corticosteroids can prevent virilization of female fetuses with 21-hydroxylase deficiency. In most cases RFLP analysis of the 21-hydroxylase genes is not informative enough for prenatal diagnosis. Our results from the present retrospective family study indicate that TaqI HLA-B and -DRB RFP analysis will be a valuable tool for first trimester assessment of 21-hydroxylase deficiency. TagI HLA-B and -DRB RFLP analysis can be performed on DNA from chorionic villi biopsies obtained in the 8th week of pregnancy. Supplemented with sex determination, early withdrawal of prophylactic steroid therapy will thus be feasible when the mother carries a male or an unaffected female fetus. 相似文献
3.
Rodearmel SJ Wyatt HR Barry MJ Dong F Pan D Israel RG Cho SS McBurney MI Hill JO 《Obesity (Silver Spring, Md.)》2006,14(8):1392-1401
Objective: Preventing weight gain in adults and excessive weight gain in children is a high priority. We evaluated the ability of a family‐based program aimed at increasing steps and cereal consumption (for breakfast and snacks) to reduce weight gain in children and adults. Research Methods and Procedures: Families (n = 105) with at least one 8‐ to 12‐year‐old child who was at‐risk‐for‐overweight or overweight (designated as the target child) were recruited for the study. Eighty‐two families were randomly assigned to receive the family‐based intervention and 23 families to the control condition. The 13‐week intervention consisted of specific increases in daily steps (an additional 2000 steps/d) and consumption of 2 servings/d of ready‐to‐eat cereal. Results: The intervention was successful in increasing walking (steps) and cereal consumption. The intervention had positive, significant effects on percentage BMI‐for‐age and percentage body fat for target children and weight, BMI, and percentage body fat for parents. On further analysis, the positive effects of the intervention were seen largely in target girls and moms, rather than in target boys and dads. Discussion: This family‐based weight gain prevention program based on small changes holds promise for reducing excessive weight gain in families and especially in growing overweight children. 相似文献
4.
Summary When 458 parents of children suffering from cystic fibrosis (CF) from all over the German Democratic Republic were interviewed to determine the number of their siblings, it was found that the maternal families had a total of 1369 children and the paternal, 1220. While the fathers of CF patients tended to originate from families with one or two children, more mothers than fathers came from families with three to twelve children (P=0.01). The average number of children in the maternal families was 2.99; in the paternal families, only 2.66. To rule out any methodological errors, sibs of mothers and fathers of various control groups were studied. We found that the number of siblings in these groups was balanced. The differences in our findings are probably due to CF heterozygosity. The underlying mechanism is unknown. 相似文献
5.
以华北落叶松控制授粉群体的全部子代为材料,母本相同的个体视为同一家系,利用18对SSR分子标记对7个家系257个个体进行扩增,分析其遗传多样性及其遗传分化水平。结果表明:(1)18个SSR位点共检测到72个等位基因,平均等位基因数4个,有效等位基因数(Ne)为1.247~3.411。(2)7个家系的平均有效等位基因数为2.135个,观测杂合度(Ho)为0.518,期望杂合度(He)为0.502,Shannon信息指数0.846,其中55号家系遗传多样性水平最高,56号的遗传多样性水平最低。(3)遗传分化系数(GST)为0.113,各家系群体处于中等遗传分化水平,AMOVA分析结果显示82%的遗传变异存在于家系内,18%的遗传变异存在于家系间。(4)聚类分析结果表明,55号与59号家系的遗传距离最近,具有较近的亲缘关系,49号家系与其他家系的遗传距离最远。(5)结合遗传多样性及遗传分化水平结果,估算获得选择核心家系数及核心个体数,选择5个家系均可获得96%以上的遗传多样性,对于个体数较少的家系,选择15~20个个体;对于个体数较多的家系,选择35个个体,即可获得96%以上的遗传多样性。该研究结果对华北落叶松种子园育种群体的选择及其遗传多样性的保护具有重要意义。 相似文献
6.
Barbara Heude Sverine Dubois Marie‐Aline Charles Marianne Deweirder Christian Dina Jean‐Michel Borys Pierre Ducimetire Philippe Froguel 《Obesity (Silver Spring, Md.)》2004,12(3):499-504
Objective: The VNTR polymorphism 5′ of the insulin gene has been related to obesity in a previous study on children with early onset of severe obesity. Our purpose was to analyze the association between this polymorphism and adiposity variability in an unselected population of children and adolescents in northern France. Research Methods and Procedures: In 293 nuclear families from the Fleurbaix Laventie Ville Santé study, we genotyped the INS VNTR polymorphism in 431 children and adolescents (8 to 18 years of age) and their parents. Overweight was defined according to the international definition in both children and adults. A transmission disequilibrium test in families with an overweight offspring was performed. The prevalence of overweight was compared according to genotype. The effect of the genotype on BMI and waist circumference was tested with a linear regression model, adjusting for age, gender, and Tanner stage. Results: There was an undertransmission of class III alleles from heterozygous parents to their overweight offspring (p < 0.002). Overweight was associated with class I alleles in children and adolescents (12% I/I, I/III vs. 3% III/III; p < 0.08). Those with a class III/III genotype had a 1 kg/m2 lower mean BMI (p = 0.04) and 3 cm lower waist circumference (p = 0.02) than those bearing one or two class I alleles. No association of adiposity or obesity with class I alleles was found in parents. Discussion: INS VNTR polymorphism seems to contribute to differences in adiposity level in the general population of children and adolescents. 相似文献
7.
Summary A map distance of 2.9 cM between D7S13 (pB79a) and the cystic fibrosis (CF) locus was obtained from the analysis of 13 informative families with a history of CF. This result is based solely on the HindIII restriction fragment length polymorphism (HindIII-RFLP) at D7S13, since the interpretation of the Msp1-RFLP at this locus was found to be unreliable. 相似文献
8.
Plachta-Danielzik S Pust S Asbeck I Czerwinski-Mast M Langnäse K Fischer C Bosy-Westphal A Kriwy P Müller MJ 《Obesity (Silver Spring, Md.)》2007,15(12):3159-3169
Objective: To evaluate the 4‐year outcome of a school‐based health promotion on weight status as part of the Kiel Obesity Prevention Study (KOPS). Research Methods and Procedures: Within a cluster‐sampled quasi‐randomized controlled trial, 1764 children at 6 and 10 years of age were assessed between 1996 and 2005 in 32 primary schools in Kiel, North Germany. Six nutrition units followed by 20‐minute running games were performed within the first year at school. Prevalence, incidence, and remission of overweight were main outcome measures. Results: The 4‐year change in BMI was +11.6%, with increases in prevalence of overweight and obesity from 5.2% to 11.1% and 3.9% to 5.1%, respectively. Cumulative 4‐year incidence of overweight and obesity was 9.2% and 3.1%, respectively. Intervention had no effect on mean BMI. The effect on prevalence was significant in children from families with high socioeconomic status [odds ratio (OR), 0.35; 95% confidence interval (CI), 0.14 to 0.91] and marginally significant in children of normal‐weight mothers (OR, 0.57; 95% CI, 0.33 to 1.00). Cumulative 4‐year incidence of overweight was lower only in intervention children from families with high socioeconomic status (OR, 0.26; 95% CI, 0.07 to 0.87). Remission of overweight was most pronounced in children of normal‐weight mothers (OR, 5.43; 95% CI, 1.28 to 23.01). Prevalence of underweight was unchanged. The intervention had minor but favorable effects on lifestyle. Discussion: A school‐based health promotion has sustainable effects on remission and incidence of overweight; it was most pronounced in children of normal‐weight mothers and children from families with high socioeconomic status. There was no effect on obesity. The data argue in favor of additional measures of prevention. 相似文献
9.
Objective: The purpose of this study was to examine whether television viewing (TVV) provides a context for patterns of snacking fostering overweight in young girls from overweight and non‐overweight families. Research Methods and Procedures: Participants were 173 non‐Hispanic white girls and their parents from central Pennsylvania, assessed longitudinally when girls were 5, 7, and 9 years old. Path analysis was used to test patterns of relationships among girls’ TVV, snacking while watching television, snacking frequency, fat intake from energy‐dense snack food, and girls’ increase in body mass index (BMI) from age 5 to 9. Results: In both overweight and non‐overweight families, girls who watched more television consumed more snacks in front of the television. In families where neither parent was overweight, television viewing was the only significant predictor of girls’ increase in BMI. In families where one or both parents were overweight, girls who watched more television snacked more frequently, and girls who snacked more frequently had higher intakes of fat from energy‐dense snacks, which predicted their increase in BMI from age 5 to 9. TVV did not directly predict girls’ increase in BMI in girls from overweight families. Discussion: The results of this study support and extend previous findings that have shown that excessive television viewing and snacking patterns are risk factors for the development of overweight in children; however, patterns of relationships may differ based on parental weight status. For overweight families, TVV may provide a context for excessive snack consumption, in addition to inactivity. 相似文献
10.
Kim J Peterson KE Scanlon KS Fitzmaurice GM Must A Oken E Rifas-Shiman SL Rich-Edwards JW Gillman MW 《Obesity (Silver Spring, Md.)》2006,14(7):1107-1112
Objective: To examine overweight trends over a 22‐year period among preschool‐aged children from primarily middle‐income families enrolled in a health maintenance organization. Research Methods and Procedures: From well‐child care visits to a Massachusetts health maintenance organization, we randomly selected one visit per child per calendar year, yielding a study sample of 120,680 children seen at 366,109 visits from 1980 through 2001. Using multivariate logistic regression models accounting for repeated observations of individual children across years, we estimated trends in prevalence of overweight (weight‐for‐length/height ≥ 95th percentile) and at‐risk‐for‐overweight (85th to 95th percentile). Results: Over the 22‐year study period, the observed prevalence of overweight increased from 6.3% to 10.0% and at‐risk‐for‐overweight increased from 11.1% to 14.4%. These increases were evident among all groups of children including infants < 6 months of age. Overall, the adjusted odds ratios were 1.21 per decade (95% confidence interval, 1.17 to 1.25) for overweight and 1.06 per decade (95% confidence interval, 1.03 to 1.08) for at‐risk‐for‐overweight. Discussion: Rates of overweight are increasing in very young children, even infants, from primarily middle‐class families. 相似文献
11.
Repeated sequences cloned from the DNA of the sea urchin S. purpuratus were used as probes to measure the lengths of individual families of repeats. Some probes reassociated much more rapidly with preparations of long repeats than with short repeats while others reassociated more rapidly with short repeats than with long repeats. In this way two of five cloned repeats were shown to represent families with a great majority of sequences in the long class. One represented a family with similar numbers of long and short class members. Two were members of predominantly short class families. — The cloned repeats representing long class families, formed more precise duplexes than those representing short class families. Thermal stability measurements using S. purpuratus or S. franciscanus driver DNA showed that precise repetitive sequences have as great an interspecies sequence difference as the less precise repeats. Thus the precision of many families may result from recent multiplication rather than from selective pressure on the DNA sequences. Measurements of evolutionary frequency change show a clear correlation between the frequency change and the size of families of repeats in S. purpuratus. Comparison with S. franciscanus indicates that many of the large size families in S. purpuratus are those that have grown in size since these two species diverged. 相似文献
12.
Genetic analysis of hereditary deafness (HD) has been performed in the city of Kirov and ten rural districts of Kirov oblast
(administrative region). The analysis employed the methods used in audiology, medical genetic counseling, and DNA diagnosis.
Deafness has been established to be hereditary in 143 children from 100 unrelated families. The incidence rates of isolated
and syndromic HDs in the period studied (1995–2001) have been estimated at 1.25 and 0.36 per 1000 newborns, respectively,
the total incidence rate of all HD forms being 1.61 per 1000 newborns (1 case per 621 newborns). DNA analysis for the detection
of seven frequent mutations in the genes GJB2 (the 35delG, 167delT, 235delC, and M34T mutations), GJB6 (the del(GJB6-D13S1854) and del(GJB6-D13S1830) mutations), and TMC1 (the R34X mutation) has been performed in families with isolated neurosensory deafness. Molecular genetic analysis has detected
mutations in 51 children (48.6%); in 54 children (51.4%), no mutations have been found. The following genotypes have been
identified in children with HD: 35delG/35delG in 32 probands (30.5%), 35delG/+ in 16 probands (15.2%), 35delG/235delC in 1
proband (0.95%), M34T/+ in 1 proband (0.95%), and M34T/35delG in 1 proband (0.95%). The 167delT mutation has not been found.
The frequency of the 35delG mutation in the GJB2 gene has been estimated to be 39.05%. In the group with a family history of HD, mutations have been found in 66.7% of patients;
in the group without a family history of HD, in 37.5% of patients. No mutation has been found in the GJB6 or TMC1 gene. Molecular genetic analysis has been performed in a family with clinically diagnosed Treacher Collins-Franceschetti
syndrome. Sequencing has been used to find the 748–69C>T polymorphism in intron 6 (in the homozygous state) and the 3635C>G
mutation in exon 23 leading to the substitution of glycine for alanine at position 1176 of the amino acid sequence (Ala1176Gly,
in the heterozygous state), which have not been described before. 相似文献
13.
Theendakara V Tromp G Kuivaniemi H White PS Panchal S Cox J Winters RS Riebeling P Tost F Hoeltzenbein M Tervo TM Henn W Denniger E Krause M Koksal M Kargi S Ugurbas SH Latvala T Shearman AM Weiss JS 《Human genetics》2004,114(6):594-600
Schnyders crystalline corneal dystrophy (SCCD) is a rare autosomal dominant eye disease with a spectrum of clinical manifestations that may include bilateral corneal clouding, arcus lipoides, and anterior corneal crystalline cholesterol deposition. We have previously performed a genome-wide linkage analysis on two large Swede-Finn families and mapped the SCCD locus to a 16-cM interval between markers D1S2633 and D1S228 on chromosome 1p36. We have collected 11 additional families from Finland, Germany, Turkey, and USA to narrow the critical region for SCCD. Here, we have used haplotype analysis with densely spaced microsatellite markers in a total of 13 families to refine the candidate interval. A common disease haplotype was observed among the four Swede-Finn families indicating the presence of a founder effect. Recombination results from all 13 families refined the SCCD locus to 2.32 Mbp between markers D1S1160 and D1S1635. Within this interval, identity-by-state was present in all 13 families for two markers D1S244 and D1S3153, further refining the candidate region to 1.58 Mbp. 相似文献
14.
Kirsten Krahnstoever Davison Lori A. Francis Leann L. Birch 《Obesity (Silver Spring, Md.)》2005,13(11):1980-1990
Objective: It has been shown that girls from families in which mothers and fathers had high dietary intake and low physical activity (i.e., obesigenic families) were at increased risk of obesity from ages 5 to 7 years. This follow‐up study uses additional data collected when girls were 9 and 11 years old to examine whether girls from obesigenic families continued to show greater increases in BMI over time and reported unhealthy dietary and activity patterns. Research Methods and Procedures: Families from the original cohort were reexamined when girls were 9 and 11 years of age. Parents’ and girls’ BMI, dietary intake, and physical activity and girls’ percentage body fat and television viewing were assessed. Results: In comparison with girls from non‐obesigenic families, girls from obesigenic families showed greater increases in BMI and BMI z score from ages 5 to 7 years that were maintained across ages 7 to 11 years. Furthermore, girls from obesigenic families had higher percentage body fat at ages 9 and 11 years. These results were independent of parents’ BMI. Additional findings showed that girls from obesigenic families had diets higher in percentage fat and had higher levels of television viewing than girls from non‐obesigenic families. Discussion: The environment that parents create, by way of their own dietary and physical activity behaviors, may have a lasting negative effect on children's weight trajectories and their emerging obesity risk behaviors, such as their dietary patterns. These findings further highlight the importance of the family in establishing children's obesity risk and the necessity of targeting parents of young children in obesity prevention efforts. 相似文献
15.
Variation of 20 quantitative characters was examined within and among 10 populations of the predominantly outcrossing Phlox drummondii and 4 populations of the predominantly selfing P. cuspidata grown in a greenhouse. Multivariate analysis of variance, considering all characters simultaneously, indicated that there were significant differences among populations in both species while analysis of individual characters demonstrated that there were significant population differences for 19 characters in P. drummondii and 13 characters in P. cuspidata. On average, 16% of the total phenotypic variation in P. drummondii occurred among populations compared to less than 4% of the total variation in P. cuspidata. In addition, P. drummondii exhibited significant differences among families within populations more frequently than P. cuspidata. Most observed variation in both species occurred within families where environmental and genetic sources of variation could not be partitioned. There was a trend for P. drummondii to have higher heritabilities than P. cuspidata for most characters even when assumptions about breeding systems were relaxed. Thus, the outbreeding species exhibited larger genetic differences among populations and among families within populations than the selfing species in the greenhouse environment. These data suggest that P. drummondii has the greater evolutionary potential of the two species and are consistent with the hypothesis that differences in population structure result from differences in the breeding systems of the two species. 相似文献
16.
Phylogenetic interrelationships of 32 species belonging to 18 genera and four families of the superfamily Microphalloidea were studied using partial sequences of nuclear lsrDNA analysed by Bayesian inference and maximum parsimony. The resulting trees were well resolved at most nodes and demonstrated that the Microphalloidea, as represented by the present data-set, consists of three main clades corresponding to the families Lecithodendriidae, Microphallidae and Pleurogenidae + Prosthogonimidae. Interrelationships of taxa within each clade are considered; as a result of analysis of molecular and morphological data, Floridatrema Kinsella & Deblock, 1994 is synonymised with Maritrema Nicoll, 1907, Candidotrema Dollfus, 1951 with Pleurogenes Looss, 1896, and Schistogonimus Lühe, 1909 with Prosthogonimus Lühe, 1899. The taxonomic value of some morphological features, used traditionally for the differentiation of genera within the Lecithodendriidae and Prosthogonimidae, is reconsidered. Previous systematic schemes are discussed from the viewpoint of present results, and perspectives of future studies are outlined. 相似文献
17.
Jutta Köhler Barbara Rupilius Michael Otto Klaus Bathke M. C. Koch 《Human genetics》1996,98(4):485-490
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited neuromuscular disorder affecting facial
and shoulder girdle muscles with subsequent progression to the pelvic girdle and lower extremities. The major gene involved
has been localized to chromosome 4q35 (FSHD1A). The 4q35 DNA marker p13E-11 (D4F104S1) detects a de novo EcoRI DNA rearrangement of < 30 kb in isolated and familial cases. The intrafamilial size of the fragment is constant, inversely
correlated with the severity, and directly correlated with the age of onset of the condition. There has been evidence of parental
mosaicism in FSHD1A for the D4F104S1 locus. Four female and three male clinically unaffected parents have been described to
be carriers of EcoRI fragments of the same size as their affected offspring, but with a markedly less intensive hybridization signal (semi-quantitative
evidence). In our total sample of 42 FSHD1A families, we found semi-quantitative evidence of parental D4F104S1 mosaicism in
11 families (EcoRI fragment size range: 12–27 kb). On analysis with adjacent 4q35 probes (D4S163, D4S139), additional qualitative evidence
of germline mosaicism could be obtained in two families. In our mosaic families and in the families reported in the literature,
a female predominance of mosaicism carriers (13 females versus 5 males) could be noted. In our sample, mosaicism was observed
in multigeneration families, in families with isolated cases, and in families with two and three affected children from seemingly
unaffected parents. A short EcoRI fragment once having emerged in a mosaicism carrier was found to be transmitted autosomal dominantly to subsequent generations.
Of all reported sporadic patients, 19% have a mosaic parent. Finding evidence of parental mosaicism in all our families with
more than one affected child of seemingly unaffected parents suggests that there is no autosomal recessively inherited form
of FSHD1A.
Received: 5 March 1996 / Revised: 14 May 1996 相似文献
18.
《Biodemography and social biology》2013,59(1-2):71-81
Abstract Hierarchical regression analyses and response surfaces were used in an investigation of relationships between sibling variables and adolescents’ perceptions of their family environments, after the impact on the perceptions of earlier family measures was taken into account. The analyses involved Australian adolescents and included 260 Anglo‐Australian, 120 Greek, and 90 Southern Italian families. Regression models included terms to test for possible linear, interaction, and curvilinear associations between the sibling and family environment variables. The analysis suggested the propositions that: (a) parents from different ethnic groups create different learning environments for their children and that there are ethnic‐group variations in how children perceive their family environments, (b) there are ethnic‐group variations in relationships between sibling variables and adolescents’ perceptions of their parents’ support for learning, and (c) within ethnic groups the relationships between sibling variables and perceived parental support for learning differ, depending on whether the support of fathers or mothers is being considered. 相似文献
19.
Claudia Semmler Jo Ashcroft Cornelia H.M. van Jaarsveld Susan Carnell Jane Wardle 《Obesity (Silver Spring, Md.)》2009,17(4):814-820
The purpose of the study was to test the hypothesis that socioeconomic status (SES) moderates the association between parental weight and changes in BMI from childhood to early adolescence. Participants included 428 twin children from 100 families with obese parents (“obese families”) and 114 sociodemographically matched families with normal‐weight parents (“lean families”) who were assessed in their homes (age = 4.4). Follow‐up study was conducted 7 years later (age = 11.2) on 346 children (81%). Complete data were available for 333 children. Family SES was indexed with maternal education. Children's weights and heights were measured to calculate BMI s.d. scores based on 1990 British norms. Overweight was defined as >91st BMI centile. In children with obese parents, BMI s.d. scores increased from 0.51 at age 4 to 1.06 at age 11. In children with lean parents, BMI s.d. scores decreased from 0.11 to 0.05. Prevalence of overweight remained stable from age 4 to 11 in children with lean parents (8% to 9%), but it more than doubled in children with obese parents (17% to 45%). There was a significant interaction between parental weight and family SES (P < 0.01), so that in children with lean parents there was no SES difference in the BMI status from age 4 to 11; however, in children with obese parents, the increase in adiposity was significantly greater in lower SES families. These results suggest that parental leanness confers significant protection against development of overweight in children regardless of family SES, while parental obesity is an adverse prognostic sign, especially in lower SES families. 相似文献
20.
N. Rahman Fatima Abidi Deborah Ford Laura Arbour Elizabeth Rapley Patricia Tonin David Barton Gillian Batcup J. Berry Finbarr Cotter Val Davison Mary Gerrard Elizabeth Gray Richard Grundy Magdi Hanafy Derek King Ian Lewis Annette Ridolfi Luethy Lisa Madlensky Jill Mann Anne O’Meara Tony Oakhill Mark Skolnick Louise Strong Dick Variend Steven Narod Charles Schwartz Kathryn Pritchard-Jones Michael R. Stratton 《Human genetics》1998,103(5):547-556
A susceptibility gene for Wilms’ tumour (WT), designated FWT1, was previously mapped to chromosome 17q12–q21 by linkage analysis of a single family. We now confirm the existence of this
gene by analysis of additional cases in the original family (3-point LOD score=5.69), and by detecting strong evidence of
linkage to this region in an unrelated pedigree with seven cases of WT (3-point LOD score=2.56). Analysis of 11 smaller WT
families confirms that there is genetic heterogeneity in familial WT, as three families exhibit strong evidence against linkage
to FWT1. One of these was subsequently found to have a predisposing WT1 mutation. However, the other two families show evidence against both FWT1 and WT1, suggesting that at least one further familial WT gene exists. Analysis of the phenotype of 16 WT cases from the families
linked to FWT1 demonstrates that they present at a significantly older age and a significantly later stage than both sporadic WT and the
six cases from two families unlinked to either FWT1 or WT1. The results confirm the role of FWT1 in susceptibility to WT, provide strong evidence for genetic heterogeneity in familial WT and suggest there are phenotypic
differences between familial WT due to FWT1, familial WT due to other genes and non-familial WT.
Received: 24 April 1998 / Accepted: 8 July 1998 相似文献