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Biomedical subjects

M Hultén

Publications and source records attributed to M Hultén.

16 recordsLinked to original sources
PubMed1992

Predictive diagnosis of familial adenomatous polyposis with linked DNA markers: population based study.

OBJECTIVES: To evaluate the use of polymorphic DNA probes linked to the APC gene in the presymptomatic diagnosis of familial adenomatous polyposis. DESIGN: Four DNA probes were tested on an unselected population of patients at risk of familial adenomatous polyposis. SUBJECTS: The first 47 families notified to the West Midlands familial adenomatous polyposis register. Plus five families sent to our hospital as part of the West of Britain DNA consortium. MAIN OUTCOME MEASURES: The proportion of families and family members in whom DNA testing could be used to adjust the estimate of risk. RESULTS: Only 17 families on the register (containing 46% (74/162) of the population at risk) had a suitable pedigree structure for DNA analysis. DNA was analysed in 12 of these families plus the five families from the West of Britain consortium. At least one probe was informative in 27 of the 33 subjects born with 50% risk, but the most informative probe (pi 227) was the one with the highest recombination rate (10%). Flanking markers were informative in only four of the 33 subjects. CONCLUSIONS: These findings confirm the potential for accurate predictive diagnosis of familial adenomatous polyposis with polymorphic DNA probes, but such an approach is currently limited to about one third of affected families. A combined approach to presymptomatic diagnosis, which includes DNA testing and indirect ophthalmoscopy, is advocated.

Adenomatous Polyposis Coli↗
PubMed1990

Chiasma-based genetic maps of chromosome 21.

The available cytogenetic data on meiotic chiasmata have been used to construct sex-specific genetic maps, showing the genetic distances and recombination fractions along the length of 21q. The male maps are based on direct observations of spermatocytes, while the female maps are derivations related to the increased chromosome length in oocytes. The male chiasma data have also been used as a frame of reference for ordering and positioning loci on the physical map with D21S110 as a fixed point.

Chromosome Mapping↗
PubMed1990

Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.

We present here a historical documentation of a female with X-linked hypohidrotic ectodermal dysplasia (XHED) and a de novo X/9 chromosome translocation. The patient was verbally reported by Dr. P.L. J. Cook to the HGM conference in 1973, but was subsequently lost to follow up. We have since traced her and confirmed the diagnosis of XHED with moderately severe mental retardation. According to Dr. P. L. J. Cook's records, fibroblast cell line AnLy GMO 705, was derived from this patient. Another female with a de novo X/12 chromosome translocation and hypohidrotic ectodermal dysplasia was recently reported. In both cases, the X chromosome breakpoint appears to be at Xq13.1.

Cell Line↗
PubMed1978

The use and limitations of chiasma scoring with reference to human genetic mapping.

Human chiasma data are summarized, and some preliminary new observations in fetal oocytes are presented. Male chiasma data may give reliable estimates of genetic lengths, both for individual chromosome arms and for the total autosomal complement. Female data are as yet less accurate and give information according to chromosome group only. Movement of chiasmata before they can be reliably scored is unlikely. In both sexes, chiasmata are seen to be clustered along the length of the chromosomes, which may reflect crossingover interference and a tendency for crossingover to more often take place in certain chromosome segments; there are some indications of sex differences in these preferences.

Chromatids↗
PubMed1977

A chiasma map of man.

By fitting compounds beta distributions to chiasma frequencies the physical map obtained from banded chromosomes has been converted into a chiasma map giving the distribution of observed chiasmata in relation to several hundred cytological bands, assuming proportionality of mitotic and meiotic chromosomes. This is a genetic map if there is a precise correspondence between sites of chiasmata and crossing-over. However, if there is appreciable preanaphase movement of chasmata, then the chiasma map is a serious distortion of the genetic map. Predictions from the chiasma map can be confirmed or refuted only by genetic evidence for which the estimates of this paper serve as initial values to begin maximum likelihood iteration.

Chromosome Mapping↗
PubMed1977

A mapping function for man.

Assuming a perfect correspondence between the site of crossing-over and an observed chiasma, data on meiosis in the human male are used to estimate a mapping parameter which on average turns out to be intermediate between the Kosambi and Carter-Falconer values, but smaller for acrocentrics. A table is given for converting recombination frequencies to map distances.

Chromosome Mapping↗