Linkage mapping of the D8S133 locus to chromosome 8p using a highly informative, polymorphic, complex dinucleotide repeat.
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Base Sequence↗
Biomedical subjects
M Schertzer
Publications and source records attributed to M Schertzer.
Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors.
A linkage map consisting of 21 dinucleotide repeat polymorphisms, 1 tetranucleotide repeat polymorphism, and 3 RFLPs was constructed for human chromosome 8. The map spanned most of the chromosome length from near pter to q23-q24 on the distal portion of the long arm. The total 186 cM length of the female map was over two times the 84 cM length of the male map. Cytogenetic mapping of the polymorphisms using a panel of hybrids containing rearranged chromosomes was completely consistent with the linkage map. Special effort was made to remove as many genotyping errors, including parental phase errors, as possible. Removal of errors, in agreement with recent theoretical predictions, led to reduction of the total length of the sex-equal map by 10% from 145 to 130 cM.
Alleles↗
Characterization of a human chromosome 8 cosmid library constructed from flow-sorted chromosomes.
A cosmid library for human chromosome 8 has been constructed from flow-sorted chromosomes in the vector sCos-1. This library is 85% human and has been arrayed into 210 microtiter plates representing four genome equivalents. Cosmids have been isolated with 10 of 11 probes representing nine different loci from chromosome 8.
Chromosome Mapping↗
A polymorphic complex dinucleotide repeat at the telomeric D8S7 locus.
Two cosmids isolated from a flow-sorted chromosome 8 library by hybridization with pSW50 (D8S7) were screened for GT microsatellite sequences. Both contained a positive 900-bp Hind III-Xba I fragment. Sequencing revealed a complex dinucleotide repeat. Flanking oligonucleotide primers were synthesized, and the polymerase chain reaction products produced by these primers were typed within the CEPH panel of families. A two-allele polymorphism was identified that is in linkage disequilibrium with a previously described insertion-deletion polymorphism at this locus.
Base Sequence↗
Dinucleotide repeat polymorphism at the D8S135 locus on chromosome 8p.
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Base Sequence↗
Pathogenesis of complications of percutaneous endoscopic gastrostomy. A lesson in surgical principles.
In two comparable series of percutaneous endoscopic gastrostomy differing in only one technical detail, complications were significantly reduced by omitting traction on the gastrostomy tube to approximate the gastric to the abdominal wall. Radiologic studies show that traction shortened the tract (4.9 +/- 1.1 cm with traction, 11.6 +/- 2.3 cm without traction). In two patients with fasciitis, gross pericatheter leak of contrast into a short and patulous tract was observed. Tube extrusion and gastrointestinal bleeding from gastric ersion ulcers were eliminated when traction was not used. No peritonitis occurred as a result of not attempting to approximate the stomach to the abdominal wall. The data suggest that traction on the gastrostomy tube is not only unnecessary, but is the cause of many of the complications reported.
Aged↗
A rare TaqI RFLP immediately 3' of the HEXB gene on chromosome 5.
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Chromosome Mapping↗
Inverted tandem duplication generates a duplication deficiency of chromosome 8p.
An adult female with sever mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (p12----p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23----8pter, showed that the patient was monosomic for this marker. Thus the de novo rearrangement generated a duplication-deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are discussed.
Abnormalities, Multiple↗