Molecular genetics of intestinal glucose transport.
Explore the source record for details and available documents.
Animals↗
Biomedical subjects
B Zabel
Publications and source records attributed to B Zabel.
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.
The Langer-Giedion syndrome (LGS), which is characterized by craniofacial dysmorphism and skeletal abnormalities, is caused by a genetic defect in 8q24.1. We have used 13 anonymous DNA markers from an 8q24.1-specific microdissection library, as well as c-myc and thyroglobulin gene probes, to map the deletion breakpoints in 16 patients with LGS. Twelve patients had a cytogenetically visible deletion, two patients had an apparently balanced translocation, and two patients had an apparently normal karyotype. In all cases except one translocation patient, loss of genetic material was detected. The DNA markers fall into 10 deletion intervals. Clone L48 (D8S51) defines the shortest region of deletion overlap (SRO), which is estimated to be less than 2 Mbp. Three clones--p17-2.3 EE (D8S43), L24 (D8S45), and L40 (D8S49) - which flank the SRO recognize evolutionarily conserved sequences.
Bacteriophage lambda↗
[Hepatitis B virus DNA. Current diagnosis in children with chronic hepatitis B].
After cloning the hepatitis B virus genome molecular hybridization techniques have been established for detection of HBV-DNA in serum and liver tissue. HBV-DNA is presently the most sensitive marker of viral replication and infectivity, which was previously related to the presence of HBeAg in serum and HBcAg in liver cells. HBV-DNA is usually analysed by dot blot-, Southern blot- and in situ hybridization techniques. The study of HBV-DNA has become a valuable part of the routine diagnostic in chronic hepatitis B, providing a more reliable estimation of viral replication and contagiousness and better parameters for severity and prognosis of the chronic infection.
Blotting, Southern↗
Distribution of type I and type II collagen gene expression during the development of human long bones.
The temporal and spatial gene expression of collagen type I and type II during the development of the human long bones was studied by the technique of in situ hybridization covering the period from the cartilagenous bone anlage to the formation of a regular growth plate in the newborn. Analysis of the early stages around the seventh week of gestation revealed for type II collagen a strong hybridization signal limited to the chondrogenic tissue. The surrounding connective tissue and the perichondrium showed weak type I collagen expression, while the zones of desmal ossification like the clavicle gave a strong signal. Beginning with the eighth week of gestation, type I collagen mRNA was detectable in newly formed osteoblasts at the diaphysis and appeared along with the formation bone marrow, in the areas of enchondral ossification. Parallel to the development of the different zones of cartilage differentiation, a specific pattern of type II expression could be observed: type II was mainly found in the chondrocytes of the hypertrophic zone and to a lesser degree in the zone of proliferation, while the resting zone and the zone of provisional calcification showed little activity. This segregation of type II expression was most pronounced in the early stages of cartilage calcification and in the growth plate of the newborn.
Bone Development↗
Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones.
Microdissection and microcloning of banded human metaphase chromosomes have been used to construct a genomic library of 20,000 clones that is highly enriched for chromosome 11p13 DNA sequences. Clones from this library have been mapped on a panel of human-rodent somatic cell hybrids that divides the region from distal p12 to proximal p14 into seven physical intervals, A total of 1500 clones has been isolated, 250 clones have been characterized, and 58 clones have been mapped. Six of the clones were used to complete a long-range physical map of 7.5 megabases through the region. Two of the clones are localized to the Wilms tumor (WT) region, three are localized to the aniridia (AN2) region, and two are localized to the region between WT and AN2. The library represents DNA sequences spanning a distance of approximately 13 x 10(6) base pairs, with an average density of one clone per 37,000 base pairs.
Animals↗
[Gene therapy].
DNA technology opens up new approaches to the treatment of some hereditary diseases. By means of such techniques as retrovirus-mediated gene transfer, cloned human genes may be introduced into the cell genome to correct the defect present in these inherited disorders. Several ethical issues have been raised in the discussion of human gene therapy. There is general consensus that germline gene therapy should not be applied in humans, as the gene manipulation could be passed on to subsequent generations. As reviewed here, laboratories are focusing on concepts relating to somatic gene therapy. This approach involves the insertion of genetic material into somatic cells and is comparable with organ transplantation.
Child↗
[Simultaneous double fluorescence flow cytometry of lysed whole blood for prenatal diagnosis of combined immunodeficiency].
Simultaneous two-color flow cytometry of lysed whole blood allows the collection of maximal information from minimal blood volumes. This method was used for prenatal diagnosis of severe combined immunodeficiency by analysis of fetal blood. The data demonstrate that flow cytometry of lysed whole blood provides a reliable tool for prenatal diagnosis of certain immunodeficiencies. Moreover, the method described seems highly suitable for immunological monitoring of preterm infants and newborns. To enable the diagnosis of more subtle immunodeficiency states in these patients, however, valid normal values for all investigated parameters need to be defined first for the respective age/weight groups.
Female↗
[Familial pericentric inversion of the X chromosome [inv(X)(p11q28)]].
A familial pericentric inversion of the X chromosome [46,X,inv(X)(p11q28)] and [46,inv(X)(p11q28), Y] is reported. The carriers of the inv(X) presented no clinical symptoms. Either the inverted or the normal X chromosome may be late replicating.
Adolescent↗
[Improvement in the longitudinal growth in Ullrich-Turner syndrome with oxandrolone. Function of urinary excretion of steroid hormones].
Urinary excretion of steroid hormone metabolites pregnandiol, pregnantriol, aetiocholanolone, dehydroepiandrosterone and androsterone of 20 patients with Turner's syndrome was measured by gas chromatography. In some of the patients urinary excretion did not reach the minimal value obtained in a control group. Sixteen of these patients were given an average daily dose of 0.1 mg oxandrolone/kg body-weight. Mean value for bone age, after an average treatment duration of 17.3 months (s = 9.7), increased by 12.6 months (s = 12.7). Growth rate was 5.9 cm (s = 1.9) per year. Androsterone and dehydroepiandrosterone excretion in patients in whom the chronological age/bone age ratio had worsened, was more than double that in patients in whom it had improved. Measurement of the urinary excretion of dehydroepiandrosterone and androsterone thus seems to be of prognostic value in the treatment of Turner's syndrome with androgens.
Adolescent↗
[Klinefelter syndrome - an unusual occurrence. Observations on 59 patients].
Explore the source record for details and available documents.
Humans↗
Partial trisomy 12q.
A partial trisomy 12q243 leads to qter resulting from a maternal balanced translocation, 46,XX,t(9;12)(p243;q243) was detected in a male newborn with multiple congenital abnormalities. The maternal grandmother was also a carrier of the 9;12 translocation. Our patient exhibited a number of clinica features similar to two others reported, who were also trisomic for the distal part of 12q. Aberrations of chromosome 12 are very rare. There have been only two reports of partial trisomy 12q, both the result of a familial translocation. We describe a third unbalanced case.
Abnormalities, Multiple↗
[Ophthalmologic symptoms in trisomy 22 (author's transl)].
After a brief description of the ophthalmological findings in the autosomal trisomies, a case of the extremely rare trisomy 22 is reported. Ophthalmological abnormalities seen were hypertelorism, epicanthus, antimongoloid slant, microphthalmus, microcornea, persistent pupillary membrane, lens opacities and chorioretinal colobomata.
Chromosomes, Human, 21-22 and Y↗
Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes.
We report 2 patients from different families with malformation-retardation syndromes caused by a partial trisomy of the long and of the short arm of chromosome 5, respectively (case 1: 46,XX,der(3),t(3;5)(p27;p13)mat; case 2: 46,XY,der(22),t(5;22)(q33;q13)pat). Several members of these families were balanced translocation carriers. Our cases are compared with those cited in the literature. The possibility of delineating a 5p- and a 5q-partial-trisomy syndrome is discussed.
Abnormalities, Multiple↗
A new case of XX-male (XX/XXY mosaic).
We report a 10-year-old male patients with the predominant karyotype 46,XX. In only one cell of the testis culture a metaphase with 47,XX+G was found. The theories of etiology of XX-males and the reported cases of XX/XXY-mosaics in the literature were discussed.
Child↗
Short-arm deletion of an X chromosome (45,XO/46,XX p--).
A 31-year-old female patient with short stature, signs of gonadal dysgenesis, and slight Turner signs is described with a mosaic 45,XO/46,XX del (X) (qter leads to p11) determined with trypsin Giemsa-banding and C-staining. BUdR incorporation indicated the deleted X to be late replicating.
Adult↗
A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.
A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)).
Chromosome Aberrations↗
[Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].
Partial trisomy for the distal part of 15q due to a balanced maternal translocation t(X;15) is described in a 21-month old girl with growth and psychomotor retardation and a cranio-facial dysmorphism ressembling that of a previously reported patient. Treatment of lymphocytes with BrdU has shown inactivation of the normal X in the mother, and inactivation of either the abnormal or the normal X in the proposita. When the abnormal X was inactivated, the extent of inactivation of the autosome was variable.
Adult↗
Short arm deletion of an X chromosome, 46,XXp-.
A 27-year-old patient of short stature with primary amenorrhea and other slight Turner signs showed a 46,XX,del(X) (qter leads to p11:) karyotype, identified by a combination of fluorescence and giemsa-banding technique. By BUdR incorporation the deleted X chromosome was shown to be the late replicating one.
Adult↗