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Biomedical subjects

P Wieacker

Publications and source records attributed to P Wieacker.

At least 73 records · Page 4Linked to original sources
PubMed1987

Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq.

Linkage studies with RFLPs were performed in a large family in which the Wieacker-Wolff syndrome is segregating. In this new syndrome (McKusick, 1986, No. 31458) patients have congenital contractures, progressive neuropathic muscle atrophy, involving also some cranial nerves with oculomotor apraxia and dyspraxia of the face and tongue muscles, and mental retardation. This is an X-linked recessive syndrome. We found close linkage between the syndrome locus and the DNA segment DXYS1 (z = 3.225 at theta = 0.0) in proximal Xq.

Contracture↗
PubMed1987

Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment.

Three families with androgen resistance syndromes--two with testicular feminization and one with Reifenstein syndrome--have been studied for linkage analysis. Using three cloned DNA sequences from the centromere region and the proximal long arm of the X chromosome (p8, pDP34, and S9, which define respectively the chromosomal segments DXS1, DXYS1, and DXS17), we found no recombination between the DXS1 locus and the mutant genes in the three families. Assuming that these disorders are the result of allelic mutations at the same locus for the androgen receptor, we can conclude that there is a close linkage between DXS1 and the androgen receptor locus, with a maximum lod score zeta = 3.5 at a recombination fraction theta = 0.0 using the LIPED program (Ott 1974).

Androgen-Insensitivity Syndrome↗
PubMed1987

Cyclic administration of an LHRH analogue and of progesterone in risk patients to oral contraceptives.

Fifty-five cycles of 9 patients with normogonadotropic ovarian function having risks against oral contraceptives (OCs) and intrauterine devices (IUDs) were treated for contraception with buserelin in a dosage of 300 to 450 micrograms per day i.n. from day 5 to day 26 of the cycles. Additionally, progesterone (P) in a dosage of 75 mg per day was given by intravaginal suppositories from day 20 to day 26 of the cycle followed by a 7-day drug-free interval. Serum levels of LH, FSH and estradiol-17 beta (E2) showed a wide variability. However, most E2 levels were in the early or middle follicular phase range. Mean serum P levels monitored during P replacement were found to be in the secretory phase range. Pattern of menstrual cycles was regular in all patients except one whose menstrual bleedings were already disturbed prior to treatment. This mode of contraception was well accepted, no side effects were observed, no pregnancy occurred. In conclusion, contraception by low-dose intranasal application of buserelin combined with transvaginal P replacement seems to be a useful approach for contraception in patients at risk for both OCs and IUDs.

Administration, Intranasal↗
PubMed1986

Rapid sexing of native amniotic cells by hybridization to a cloned Y chromosome DNA probe.

A cloned DNA fragment from a Y chromosome genomic library was used for prenatal sex determination. Native cells from as little as 0.5 ml of amniotic fluid were analyzed by a dot blot hybridization technique without prior cell culture. Identification of male fetuses was possible within 3 days and confirmed by subsequent conventional karyotyping. This method of rapid sex screening is an alternative to the other methods of prenatal determination to the conventional chromosome analysis because it is a more rapid method, and to the karyotyping of chorion biopsy material because amniocentesis seems to have a lower risk and can still be performed when chorion biopsy is not more possible.

Amniotic Fluid↗
PubMed1985

A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.

Six men from three generations of one family had manifestations of a possible new syndrome. All had congenital contractures of the feet at birth, a slowly progressive predominantly distal muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mild mental retardation. The pedigree is compatible with X-linked recessive inheritance with no detectable manifestations in the obligate carriers. Linkage analysis excludes close linkage with the Xg locus and a polymorphic DNA sequence from the long arm of the X chromosome (DXS17).

Adolescent↗
PubMed1985

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome.

A large Danish pedigree segregating for X-linked retinitis pigmentosa (RPX) (Warburg and Simonsen 1968) was restudied for linkage analysis. Using two markers, i.e. the DNA base sequence polymorphism presented by the probe L1.28 defining the chromosomal segment DXS7, and the C-banding heteromorphism (Xcen) (Friedrich 1982), we were able to localize the RPX gene in Xp close to the centromere rather precisely. The gene order could be deduced by three-point linkage analysis, and the gene distances were determined by pairwise analysis using the LIPED program (Ott 1974). Together with previously published data concerning the RPX:DXS7 linkage (Bhattacharya et al. 1984) a regional gene map is constructed. Xcen-11 cM-RPX-6 cM-DXS7.

Adolescent↗
PubMed1985

X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance.

For Incontinentia pigmenti Bloch-Sulzberger (IP) and Aicardi syndrome, an X-linked dominant transmission with lethality in hemizygous males has been proposed. The typical transition from inflammation to verrucous hypertrophy and hyperpigmented skin areas in IP suggests a gradual replacement of defective cells by normal cells. This would imply a preferential inactivation of the X chromosome carrying the IP gene with a proliferative advantage of this cell population. We have confirmed this hypothesis by demonstrating that the same X chromosome is preferentially active in fibroblasts grown from normal and hyperpigmented skin of an affected girl. In contrast, X inactivation was random in a girl with Aicardi syndrome.

Abnormalities, Multiple↗
PubMed1984

Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

Closely linked restriction fragment length polymorphisms (RFLPs) are potentially useful as diagnostic markers of genetic defects, and, in principle, RFLPs can be employed to construct a complete linkage map of the human genome. On the X chromosome, linkage studies are particularly rewarding because in man more than 120 X-linked genes are known. Thus, it is probable that each X-specific RFLP will be of use as a genetic marker of one or several X-linked disorders. To facilitate the search for closely linked RFLPs, we have regionally assigned 16 cloned DNA sequences to various portions of the human X chromosome, employing a large panel of somatic cell hybrids. These probes have been used to correlate genetic and physical distances on Xp, and it can be extrapolated from these data that the number and distribution of available Xq sequences will also suffice to span the long arm of the X chromosome.

Animals↗
PubMed1983

On the genetic length of the short arm of the human X chromosome.

Published estimates of the length of the human X chromosome are unreliable because they are based on scanty linkage data and complex assumptions about the frequency and distribution of chiasmata in female meiosis. In recent months we have established linkage between restriction fragment length polymorphisms (RFLPs) and several genes on the short arm of the X chromosome. These and previous data can be combined to construct a continuous linkage map spanning the short arm from the Xg gene to the centromere. They suggest that the genetic length of the Xg-Xcen segment may be in the order of 75-90 cM.

Chromosome Mapping↗
PubMed1983

Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome.

Recently linkage has been described between the Duchenne muscular dystrophy (DMD) gene and a cloned DNA sequence, RC8, that detects restriction fragment length polymorphism and is derived from the distal short arm of the X chromosome. Positive lod scores between RC8 and Xg prompted us to examine the linkage relationship of RC8 to the steroid sulfatase-X-linked recessive ichthyosis (XRI) locus which is situated 15 cM proximal from Xg in the subtelomeric region of Xp. Unexpectedly, at least two crossovers were found among nine informative meioses of an informative family, suggesting that RC8 and XRI may be about 25 cM apart. This implies that the genetic distance between the Xg locus and the DMD locus may exceed 50 cM.

Cloning, Molecular↗
PubMed1983

Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.

In a large kindred with X-linked Menkes disease, linkage studies were performed with a restriction fragment length polymorphism (RFLP) that had been found with a cloned hybridisation probe from the proximal short arm of the X chromosome. This RFLP was considered as a potential genetic marker since the Menkes gene seems to be located near the centromere. Moreover, there is circumstantial evidence that in the (para) centric region of the X chromosome cross-overs are relatively rare. Unexpectedly, however, at least two cross-overs were detected in this family which suggests that the DNA sequence employed is of limited use for early diagnosis and carrier detection in this fatal hereditary disorder.

Alleles↗
PubMed1983

Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome.

A cloned DNA sequence, RC8, from the short arm of the X chromosome which is linked to the Duchenne muscular dystrophy (DMD) gene has been employed to study linkage relationships with the Xg-linked retinoschisis (RS) locus. Results of three point linkage analyses in two families suggest that the gene order on Xp is Xg-RS-RC8. Moreover, it can be inferred from these date that the genetic distance between Xg and DMD is approximately 55 cM.

Alleles↗
PubMed1983

An XX male with a single STS gene dose.

There is substantial evidence that many XX males arise from an X/Y interchange, so that a terminal Xp segment carrying the Xg locus, but not the neighboring steroid sulfatase (STS) locus, is replaced by part of the Y chromosome. We show here that one of the two X chromosomes of an XX male with low intracellular levels of STS does not express the STS gene.

Animals↗
PubMed1983

Exclusion of the C3 gene from the 19q133 to 19qter region by Southern analysis of human-rodent somatic cell hybrids, employing a cloned genomic C3 gene fragment.

By Southern analysis of human-rodent-somatic cell hybrids, the C3 gene could be excluded from the distal portion of the long arm of chromosome 19. In this study, a cloned genomic DNA fragment of the human C3 gene was employed as hybridisation probe. Since C3 is linked with the myotonic dystrophy (DM) and the Lewis (Le) locus, this exclusion may be relevant too for the regional assignment of these and other genes of the large chromosome 19 linkage group.

Animals↗