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M Baiget

Publications and source records attributed to M Baiget.

At least 19 recordsLinked to original sources
PubMed1992

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

Knowledge about the parental origin of new mutations and the occurrence of germline mosaicism is important for estimating recurrence risks in Duchenne (DMD) and Becker muscular dystrophy (BMD). However, there are problems in resolving these issues partly because not all mutations can as yet be directly detected, and additionally because genetic ratios are very sensitive to ascertainment bias. In the present study, therefore, analysis was restricted to currently detectable mutations (deletions and duplications) in particular types of families which tend to be rare. In order to obtain sufficient data we pooled results from 25 European centers. In mothers of affected patients who were the first in their family with a dystrophin gene deletion or duplication, the ratio between the paternal and the maternal origin of this new mutation was 32:49 (binomial test P = 0.075) for DMD. In five BMD families the ratio between paternal and maternal origin of new mutations was 3:2. Recurrence risk because of maternal germline mosaicism was studied in sisters or subsequent sibs of isolated cases with an apparently new detectable mutation. In 12 out of 59 (0.20; 95% CI 0.10-0.31) transmissions of the risk haplotype the DMD mutation was transmitted as well. No recurrences were found in nine BMD families.

Chromosome Deletion↗
PubMed1992

Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population.

We used the following polymorphic markers: APOC2 (BanI, BglI, TaqI), CKMM (NcoI, TaqI), and D19S63 (PstI) to haplotype 33 Spanish myotonic dystrophy (DM) families. We analysed the allele and haplotype frequencies of our sample, and the possible association of alleles or haplotypes with the disease. We found a slight linkage disequilibrium between APOC2 (BanI) and DM, but no disequilibrium when using all other APOC2 and CKMM RFLPs; this agrees with data previously reported. In addition, we found a very strong linkage disequilibrium when using D19S63 (PstI), the + allele being associated with the DM locus. This disequilibrium in the Spanish population indicates that D19S63 is very close to the DM locus.

Alleles↗
PubMed1992

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

Myotonic dystrophy results from expansion of a (CTG)n repeat at the 3' untranslated region of the myotonin-protein kinase gene. We show here the genomic analysis of 322 symptomatic patients with the cDNA-25 probe detecting disease specific EcoRI restriction fragments. The expansion was found in the majority of Italian and Spanish patients (92%). The implications of these results for the detection of symptomatic patients in southern Europe are discussed.

Adult↗
PubMed1991

3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.

Linkage analysis and haplotype characterization for the allelic system detected at the 3' creatine kinase muscle type (CKMM) locus were carried out in 59 myotonic dystrophy (DM) families from Italy and Spain. A maximum lod score (zmax) of 21.26 at a recombination frequency (theta) of 0.00 was found. No statistically significant linkage disequilibrium was observed between DM and the RFLPs examined. However, a substantial linkage disequilibrium was found between CKMM-TaqI and CKMM-NcoI sites in these two populations.

Alleles↗
PubMed1991

[Application of the polymerase chain reaction technique (PCR) to the molecular diagnosis of myotonic dystrophy].

We report the application of the PCR technique to study the CKMM polymorphisms in 39 Spanish Myotonic Dystrophy affected families. We have studied 255 subjects comprising 116 clinically affected DM patients. The molecular study was informative in 64% of the DM patients. For the 76 at risk individuals, the study was informative in 46 of them, confirming the non carrier status in 34 individuals and demonstrating the at risk haplotype in 12. In the remaining 30 subjects, it was not possible to establish a diagnose with this technique exclusively. The use of the CKMM probe in the DM genetic studies was extremely useful because of the close linkage with the gene (1 cM) and the high heterozygosity (PIC = 0.33). The allelic frequencies detected by the TaqI enzyme (allele I = 0.27; allele i = 0.73) and NcoI enzyme (allele J = 0.29; allele j = 0.71) are similar to the previously reported in other european populations.

Base Sequence↗
PubMed1990

[Prenatal diagnosis of myotonic dystrophy: the first experience in Spain].

We report the first prenatal diagnosis of myotonic dystrophy (MD) in Spain by DNA techniques. The previous familiar study allowed us to determine the DM haplotype in this family with the following probe/enzyme combinations: p4.1/Msp I, LDR 152/Bgl II, Apo CII/Ban I, Taq I, Bam HI, pSCII/Bgl I. In the tenth week of amenorrhea, a transabdominal biopsy was done to obtain chorionic villi. One part of the sample was processed for the cytogenetic analysis that revealed a 46 XY karyotype. The other part was used to perform the molecular analysis with two probes, p4.1 and LDR 152, determining that the fetus was a DM gene carrier with a 96% probability.

Family Health↗
PubMed1990

Hb F-Catalonia or alpha 2G gamma(2)15(A12)Trp----Arg.

Hb F-Catalonia, a G gamma chain variant with a Trp----Arg substitution at position gamma 15(A12), was observed in two Spanish newborn babies from Northeastern Spain. Analyses were performed with different reversed phase high performance liquid chromatographic procedures that allowed the identification of the amino acid replacement in only a minute quantity of the isolated G gamma X chain.

Amino Acids↗
PubMed1990

[Genetic analysis of Spanish families with myotonic dystrophy].

Myotonic dystrophy (MD) is the most common form of muscular dystrophy in adult life, with a clinical prevalence of 5.5/100,000, being the gene prevalence of 13.5. The disease is autosomal dominant with variable expressivity, existing a congenital form with a severe prognosis. Recent genetic studies revealed that the DM gene is localized in the chromosome's 19 proximal long arm and with recombinant DNA techniques, several polymorphic markers have been isolated near the gene, the closet being Apo-CII, LDR 152 and p 4.1. We have studied clinically, electrophysiologically and by genetic analysis 6 families with 32 individuals. We have diagnosed the disease in 16 individuals and after the molecular analysis, the DM gene was totally excluded in 6 clinically healthy individuals. In our preliminary study, the use of Msp I/p 4.1, Bgl II/LDR 152 y Ban I, Bgl I, Taq I/Apo-CII c-DNA and genomic was found the most informative combination. These molecular analysis seem to be very useful as a complement to the diagnosis of myotonic dystrophy.

Adolescent↗
PubMed1989

[DNA polymorphisms as implant markers in allogeneic bone marrow transplantation. Preliminary evaluation].

After allogeneic bone marrow transplantation (BMT), patient hematopoietic and lymphoid cells are replaced by cells derived from the donor marrow. To document and characterize successful engraftment, host and donor cells must be distinguished from each other. We have used DNA sequence polymorphism analysis in 6 patients, at times varying, to determine reliably the host or donor origin of posttransplant cell populations and to compare these results with those obtained using red blood cell antigens and cytogenetics. Initially full engraftment was documented in all patients. In 1 patient a mixed lymphohematopoietic chimerism was documented 6 months after BMT and it reverted to donor hematopoiesis at 1 year post BMT. Posttransplant leukemic relapse was studied in two patients and shown to be of host origin in both cases. The DNA restriction fragment length polymorphisms (RFLP), are a powerful tool for the documentation of engraftment after BMT, to document mixed lymphohematopoietic chimerism and for the evaluation of leukemic relapse.

Biomarkers↗
PubMed1989

[Detection of carriers and prenatal diagnosis of cystic fibrosis in Spanish families using DNA markers].

A molecular study of 36 Spanish families with cystic fibrosis (CF) patients is reported. The analysis of seven DNA polymorphisms adjacent to the CF gene permitted the diagnosis of 95% of the probable carriers and the antenatal diagnosis in the seven cases in which it was requested. The application of recombinant DNA techniques to the study of CF by means of the analysis of DNA markers linked to the CF gene is useful, not only to identify the latter, but also as a reference to investigate its molecular pathology and for diagnostic purposes in high risk families (families with involved members).

Cystic Fibrosis↗
PubMed1989

[Use of the recombinant DNA technic in studying cystic fibrosis in 14 Spanish families: detection of carriers and healthy subjects].

Fourteen Spanish families, containing at least one affected child with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by proper pJ3.11, pmet H and pmet D. Nine (64.3%) were fully informative for prenatal diagnosis and carrier detection; four (28.5%) were partially informative and prenatal exclusion of an affected fetus could be carried out in half of pregnancies. One (7.1%) was uninformative for these probes. Allelic frequencies obtained have also been analized, being pJ3.11 probe the most informative in our families.

Alleles↗