Twelve New Polymorphic Microsatellites on Human Chromosome 22

Porter, Joanne C.; Ram, Kavitha T.; Puck, Jennifer M.

doi:10.1006/geno.1993.1009

“…STRP Parental origin and size of the deletion was defined by a set of 10 short tandem repeat polymorphic (STRP) markers (D22S264 [Marineau et al, 1992]; D22S311 and D22S306 [Porter et al, 1993]; D22S427 [Gyapay et al, 1994]; D22S941 and D22S944 ; and D22S1638, D22S1648, D22S1623, and D22S308 [Carlson et al, 1997a] and The Genome Database. The DNA template (∼100 ng) prepared from peripheral blood or fibroblast cultures was used in a 25-l polymerase chain reaction (PCR).…”

Section: Methodsmentioning

confidence: 99%

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

Rauch

¹

,

Hofbeck

²

,

Leipold

³

et al. 1998

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Interruption of the aortic arch (IAA) is a severe malformation of the heart with known association to DiGeorge syndrome (DGS) and 22q11.2 hemizygosity. The aim of this study was to establish incidence and significance of 22q11.2 hemizygosity in an unbiased sample of patients with IAA. All 15 children with IAA who were referred to our hospital in a 3-year period were tested by chromosome and fluorescence in situ hybridization (FISH) analysis with the probes D22S75, Tuplel, and cHKAD26 and by a set of 10 simple tandem repeat polymorphic (STRP) markers. In nine of 11 children with IAA type B, 22q11.2 hemizygosity was demonstrated by FISH and STRP analysis, but in none of the four children with type A. In all but one child, deletion size was approximately 3 Mb. The girl with the smaller deletion of approximately 1.5 Mb differed because of an Ullrich-Turner syndrome-like phenotype and severe T-cell defect. Additionally, in one patient with phenotypic signs of DGS, a small deletion distal to the known DGS region containing the marker D22S308 was suspected by STRP analysis. One deletion was shown to be inherited from a healthy father and one IAA type A recurred in a sib. T-cell anomalies were evident in eight of the nine children with classical deletion, five of whom suffered also from hypoparathyroidism. With respect to cause and clinical course, IAA type A and B were shown to represent different entities. This study showed that variable symptoms of 22q11.2 hemizygosity may cluster.

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“…The patient and her parents had been tested before, for the following 10 short-tandem-repeat polymorphism (STRP) markers from the 22q11.2 region: D22S264 (Marineau et al 1992); D22S311 and D22S306 (Porter et al 1993); D22S427 (Gyapay et al 1994); D22S941 and D22S944 (Morrow et al 1995); and D22S1638, D22S1648, D22S1623, and D22S308 (Carlson et al 1997a, Genome Database), as described elsewhere (Rauch et al 1998b). Subsequently, the patient, her sibs, her parents, and her maternal grandparents were tested for STRPs at the loci D22S311 (Genome Database 190609), D22S1709 (Genome Database 5865052), D22S306 (Genome Database 190620), D22S308 (Genome Database 190623), D22S425 (Genome Database 199610), D22S303 (Genome Database 190616), D22S257 (Genome Database 180549), D22S301 (Genome Database 190613), D22S156 (Genome Database 177327), TOP1P2 (Genome Database 159908), D22S1144 (Genome Database 606049; SangerCentre bK929C8), and D22S1167 (Genome Database 610902; Sanger Centre bK373H7), by PCR amplification of DNA extracted from fresh peripheral blood and separation on 6% denaturing polyacrylamide gels (41 cm) in a Li-cor (MWG-Biotech) sequencer, as described elsewhere (Rauch et al 1998b).…”

Section: A Novel 22q112 Microdeletion In Digeorge Syndromementioning

confidence: 99%

A Novel 22q11.2 Microdeletion in DiGeorge Syndrome

Rauch

¹

,

Pfeiffer

²

,

Leipold

³

et al. 1999

The American Journal of Human Genetics

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“…The patient and her parents had been tested before, for the following 10 short-tandem-repeat polymorphism (STRP) markers from the 22q11.2 region: D22S264 (Marineau et al 1992); D22S311 and D22S306 (Porter et al 1993); D22S427 (Gyapay et al 1994); D22S941 and D22S944 (Morrow et al 1995); and D22S1638, D22S1648, D22S1623, and D22S308 (Carlson et al 1997a, Genome Database), as described elsewhere (Rauch et al 1998b). Subsequently, the patient, her sibs, her parents, and her maternal grandparents were tested for STRPs at the loci D22S311 (Genome Database 190609), D22S1709 (Genome Database 5865052), D22S306 (Genome Database 190620), D22S308 (Genome Database 190623), D22S425 (Genome Database 199610), D22S303 (Genome Database 190616), D22S257 (Genome Database 180549), D22S301 (Genome Database 190613), D22S156 (Genome Database 177327), TOP1P2 (Genome Database 159908), D22S1144 (Genome Database 606049; SangerCentre bK929C8), and D22S1167 (Genome Database 610902; Sanger Centre bK373H7), by PCR amplification of DNA extracted from fresh peripheral blood and separation on 6% denaturing polyacrylamide gels (41 cm) in a Li-cor (MWG-Biotech) sequencer, as described elsewhere (Rauch et al 1998b).…”

Section: A Novel 22q112 Microdeletion In Digeorge Syndromementioning

confidence: 99%