PMID- 9067426
OWN - NLM
STAT- MEDLINE
DCOM- 19970417
LR  - 20180214
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 75
IP  - 4
DP  - 1996
TI  - Isolation of cosmids corresponding to the chromosome breakpoints of a de novo 
      autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal 
      dysplasia.
PG  - 210-5
AB  - Hydronephrosis caused by pelvi-ureteric junction obstruction (PUJO) is a frequent 
      urological malformation assumed to result from a deficient development of the 
      ureteric bud. The exact etiology of pelvi-ureteric junction stenosis is unknown, 
      but there is convincing evidence for a genetic cause, with linkage analysis 
      predicting a hereditary hydronephrosis locus on chromosome 6p. We encountered a 
      patient with a de novo autosomal t(6;19)(p21;q13.1) and attendant bilateral 
      multicystic renal dysplasia (MRD), bilateral PUJO resulting in massive 
      hydronephrosis, and an associated von Mayer-Rokitansky-Kuster disorder. On the 
      basis of the presumption that in this patient the putative hydronephrosis gene 
      might be disrupted by the translocation, we sought to isolate DNA from the 
      breakpoint regions as the initial step in a strategy to identify genes affected 
      by the t(6; 19). Using sequential rounds of fluorescence in situ hybridization 
      (FISH) with cosmids selected from a detailed integrated map of the long arm of 
      chromosome 19, we have identified a cosmid clone that spans the breakpoint. The 
      position of the breakpoint was further localized by Southern blot analysis. Using 
      a vectorette PCR approach, rearranged DNA fragments were isolated and, by 
      comparative nucleotide sequence analysis, these were shown to contain ectopic 
      sequences. A cosmid clone containing these ectopic sequences was isolated and 
      shown by CASH (chromosome assignment using somatic cell hybrids) and FISH 
      (fluorescence in situ hybridization) analysis to map to the short arm of 
      chromosome 6 and to span the breakpoint found in the MRD patient. The isolated 
      cosmid clones are useful reagents for analysis of other MRD patients and for the 
      search for genes at or flanking the breakpoints.
FAU - Groenen, P M
AU  - Groenen PM
AD  - Laboratory for Molecular Oncology, Center for Human Genetics, University of 
      Leuven(Belgium).
FAU - Garcia, E
AU  - Garcia E
FAU - Thoelen, R
AU  - Thoelen R
FAU - Aly, M
AU  - Aly M
FAU - Schoenmakers, E F
AU  - Schoenmakers EF
FAU - Devriendt, K
AU  - Devriendt K
FAU - Fryns, J P
AU  - Fryns JP
FAU - Van de Ven, W J
AU  - Van de Ven WJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Chromosome Aberrations/embryology/*genetics
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 19/*ultrastructure
MH  - Chromosomes, Human, Pair 6/genetics/*ultrastructure
MH  - Cosmids/*genetics
MH  - DNA/genetics
MH  - Female
MH  - Fetal Diseases/*genetics
MH  - Fibroblasts/pathology
MH  - Humans
MH  - Hydronephrosis/embryology/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Kidney Pelvis/*abnormalities/embryology
MH  - Lung/pathology
MH  - Oligohydramnios/etiology
MH  - Polycystic Kidney Diseases/embryology/*genetics
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - Translocation, Genetic/*genetics
MH  - Ureter/*abnormalities/embryology
MH  - Ureteral Obstruction/embryology/etiology
EDAT- 1996/01/01 00:00
MHDA- 1996/01/01 00:01
CRDT- 1996/01/01 00:00
PHST- 1996/01/01 00:00 [pubmed]
PHST- 1996/01/01 00:01 [medline]
PHST- 1996/01/01 00:00 [entrez]
AID - 10.1159/000134485 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1996;75(4):210-5. doi: 10.1159/000134485.