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L P Ten Kate

Publications and source records attributed to L P Ten Kate.

At least 19 recordsLinked to original sources
PubMed1997

Human uteroglobin gene: structure, subchromosomal localization, and polymorphism.

Human uteroglobin (hUG) or Clara cell 10-kD protein (cc10 kDa) is a steroid-dependent, immunomodulatory, cytokine-like protein. It is secreted by mucosal epithelial cells of all vertebrates studied. The cDNA encoding hUG and the 5' promoter region of the gene have been characterized previously. Here, we report that the structure of the entire hUG gene is virtually identical to those of rabbit, rat, and mouse. It is localized on human chromosome 11q12.3-13.1, a region in which several important candidate disease genes have been mapped by linkage analyses. Our data indicate that candidate genes for atopic (allergic) asthma and Best's vitelliform macular dystrophy are in closest proximity to the hUG gene. To determine whether hUG gene mutation may be involved in the pathogenesis of these diseases, we studied two isolated groups of patients, each afflicted with either atopy or Best's disease, respectively. We detected a single base-pair change in the hUG gene in Best's disease patients and normal controls but no such change was detected in atopy patients. This alteration in hUG gene-sequence in Best disease family appears to be a polymorphism. Although the results of our investigation did not uncover mutations in hUG gene that could be causally related to the pathogenesis of either of these diseases, its conservation throughout vertebrate phyla implies that this gene is of physiological importance. Moreover, the close proximity of this gene to several candidate disease genes makes it an important chromosomal marker in cloning and characterization of those genes.

Animals↗
PubMed1996

Early prenatal diagnosis of Fanconi anaemia in a twin pregnancy, using DNA analysis.

We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IVS4+4A-->T mutation in the FAC gene. Prenatal DNA analysis showed that both fetuses were heterozygous for different mutations in the FAC gene. Both fetuses had normal male karyotypes. At 36 weeks the twins were born. They did not show congenital anomalies.

Adult↗
PubMed1996

Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis.

With the localisation of the gene for the autosomal recessive forms of proximal spinal muscular atrophies (SMA) to the chromosomal region 5q13 and the later detection of homozygous deletions of the SMN gene located in this region, prenatal prediction of SMA has become feasible and is widely applied now. In our experience with 77 prenatal predictions of SMA, follow-up of the 39 liveborn children from these pregnancies never led to a false-negative result. Application of SMN deletion analysis has consequences for prenatal prediction of SMA. When the index patient has a homozygously deleted exon 7 of the SMN gene, prenatal prediction and interpretation of results are straightforward. In families in which no DNA from the index patient is available, prenatal detection of a homozygous SMN deletion may be considered almost proof of SMA in the fetus. Absence of a deletion, however, will not guarantee an unaffected child. A real problem exists if the index patient does not show a homozygous deletion of SMN exon 7. In such cases with non-homozygous SMN deletions, one cannot be certain of 5q linkage and autosomal recessive inheritance until other SMN mutations are detected. This is an argument to abstain from prenatal diagnosis by linkage analysis in these families.

Chromosomes, Human, Pair 5↗
PubMed1994

Apparent SMA I unlinked to 5q.

A proband with a clinical picture indistinguishable from SMA type I is described. The parents are second cousins. On DNA analysis it appeared that the proband and his healthy 2 year old sib had inherited the same haplotypes for DNA markers flanking the SMA locus on 5q. This supports non-linkage of SMA to chromosome 5q in this family. The consanguinity of the parents raises the possibility of a second locus for autosomal recessive SMA type I outside the 5q12-13 region. This may have implications for genetic counselling after prenatal diagnosis in consanguineous families. Furthermore, this case illustrates the importance of the inclusion of all healthy sibs in prenatal DNA studies for SMA type I.

Chromosomes, Human, Pair 5↗
PubMed1992

Secondary retention of permanent molars: a report of five families.

The aetiopathogenesis of secondary retention is not fully understood, but heredity is involved in at least some cases. In this study first-degree relatives of 52 patients with secondary retention of permanent molars were screened for the presence of the same phenomenon in their dentition. Familial occurrence could be shown in five families. The pedigrees are compatible with autosomal dominant inheritance. HLA phenotypes and blood groups ABO, rhesus and P1 were studied in two families. The lod scores for linkage with secondary retention were added to previously reported information. The lod score for linkage for blood group system P increased from +0.940 to +1.475 at a recombination fraction of 5 per cent. It is concluded that secondary retention of permanent molars is an aetiologically heterogeneous condition in which some cases are caused by the presence of an abnormal autosomal dominant gene.

Adult↗
PubMed1991

Consanguinity sans reproche.

In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.

Alleles↗
PubMed1990

Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium.

We have determined the frequency of the major cystic fibrosis (CF) three base pair deletion (delta F508) mutation in 152 CF chromosomes from patients originating from the northern part of The Netherlands. In these patients, the deletion represents approximately 76% of CF mutations. Meconium ileus is strongly associated with homozygosity for the delta F508 mutation. The XV2c,KM19 haplotypes on the CF chromosomes without the delta F508 mutation are in disequilibrium with the population frequency, although showing an increased frequency of the 1 2 haplotype. The surplus of this haplotype is almost entirely made up by the pancreatic insufficient patients.

Cystic Fibrosis↗
PubMed1988

Frequency of births with potentially avoidable serious chromosomal anomalies in EEC countries, 1979-1982.

Child bearing at an early age and prenatal cytogenetic diagnosis in pregnant women of advanced age, combined with selective abortion, make it possible to avoid the birth of many children with serious chromosomal anomalies. To see how many of such births were still avoidable in Europe, data from 16 regional EUROCAT registers of congenital anomalies in nine EEC countries were analysed. In the period 1979-1982 about 30% of children with unbalanced anomalies of autosomes were born (live- and still-births) to mothers over 35 years of age. This amounts to an estimated 1300 cases yearly in the entire population of the nine countries. The approach shows the possible use of registry data for monitoring effects of avoidance strategies.

Chromosome Aberrations↗
PubMed1986

On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms.

The power to detect departures from the theoretical proportion of new mutants in X-linked lethal disorders has been analyzed for several types of segregation analysis, including methods based on completely linked restriction fragment length polymorphisms. It is shown that all methods require large sample sizes in order to detect even large differences between male and female mutation rates. Ascertainment bias is shown to have a great effect on the outcome of the segregation analysis. All reviewed studies concerning the proportion of new mutants in Duchenne muscular dystrophy, whether they claimed equality or inequality between the male and female mutation rates, give insufficient evidence because of ascertainment bias and a too low power. An ascertainment bias-free method is given, with the advantage that information from many studies can be combined. By doing so, in the long run, even moderate departures from equality in mutation rates (if present) can be detected.

DNA Restriction Enzymes↗
PubMed1985

The Hajdu-Cheney syndrome. A review of the literature and report of 3 cases.

The Hajdu-Cheney syndrome or acro-osteolysis syndrome is a rare disease. Only 18 well-documented cases are described in the literature. Presentation of cases in the oral surgical literature is rare. The syndrome is characterized by dissolution of terminal phalanges of the hands and feet, dolichocephaly, open cranial sutures, multiple wormian bones, absence of frontal sinuses, wide open sella turcica, progressive basilar invagination, early loss of teeth, short stature and characteristic facies. Inheritance is most likely autosomal dominant. 3 patients are presented, 2 of them are mother and son, the latter (case 2) being the youngest patient reported to date. The parents of the 3rd patient were consanguineous, raising the possibility of genetic heterogeneity. Dental, surgical and genetic aspects are discussed.

Adult↗
PubMed1978

Should we screen all newborns for cystic fibrosis?

To assess the value of detecting albumin in meconium as a screening procedure for cystic fibrosis [CF] 68,000 meconium samples were examined by BM Meconium Test, single radial immunodiffusion and benzidine reaction. The specificity and sensitivity of this combination of tests were 99.67% and 78.57% respectively. The prevalence of CF at birth was confirmed as 1:3600 in this country. This low prevalence resulted in a relatively high number of false positives. Therefore, a positive test result has a low predictive value [3.39%] and this is a serious drawback of the method. The experiences and opinions of 37 local paediatricians about the screening programme were evaluated by a simple questionnaire. Gold's decision rule was applied. The least relative cost of misclassification justifying a mass-screening programme was 3 times higher than the actual relative cost as suggested by the aggregate opinion of paediatricians in the region. These results support the view that with the methods used screening may have more disadvantages than not screening.

Albumins↗
PubMed1977

Cystic fibrosis in the Netherlands.

In the Netherlands a retrospective study of the prevalence of cystic fibrosis (CF) at birth has been performed by means of an inquiry set up among 815 medical specialists (paediatricians, lung specialists and pathologists) and by analysis of hospital admission data, death certificates and data of the national CF foundation. The study was confined to the years of birth 1961-1965. On a total of 1,239,566 live births 342 infants and children were found to have CF (1/3600). A list of all studies on the frequency of CF in Caucasian populations is presented as an appendix. A seasonal trend in the expression of the CF gene at birth (either with or without meconium ileus) was noted.

Adolescent↗