The Origin of Cytologically Unidentifiable Chromosome Abnormalities: Six Cases Ascertained by Targeted Chromosome-band Painting

Overview

Journal Hum Genet

Specialty Genetics

Date 1993 Aug 1

PMID 8365720

Citations 10

Authors

T Ohta

T Tohma

H Soejima

Y Fukushima

T Nagai

K Yoshiura

Y Jinno

N Niikawa

Affiliations

Soon will be listed here.

Abstract

De novo chromosome structural abnormalities cannot always be diagnosed by the use of standard cytogenetic techniques. We applied a previously developed chromosome-band-specific painting method to the diagnosis of such rearrangements. The diagnostic procedures consisted of microdissection of an aberrant chromosomal region of a given patient, polymerase chain reaction (PCR) amplification of the dissected chromosomal DNA, and subsequent competitive fluorescence in situ hybridization (FISH) using the PCR products as a probe pool on metaphase chromosomes from the patient and/or a karyotypically normal person. With this strategy, we studied 6 de novo rearrangements (6p+, 6q+, 9p+, 17p+, +mar, and +mar) in 6 patients. These rearrangements had been seen by conventional banding but their origin could not be identified. In all 6 patients, we successfully ascertained the origin. Using an aberrant region-specific probe pool, FISH signals appeared on both the aberrant region and a region of another specific chromosome pair. A reverse probe pool that was generated through the microdissection of normal chromosomes at a candidate region for the origin of the aberration hybridized with both the aberrant and the candidate regions. We thus diagnosed one patient with 17p+ as having trisomy for 14q32-qter, one with 9p+ as having trisomy for 12pter-p12, one with 6q+ as having a tandem duplication (trisomy) of a 6q23-q25 segment, one with 6p+ as having a tandem duplication (trisomy) of a 6p23-q21.3 segment, one with a supernumerary metacentric marker chromosome as having tetrasomy for 18pter-cen, and the last with an additional small marker chromosome as having trisomy for 18p11.1 (or p11.2)-q11.2. The present targeted chromosome-band-painting method provides the simple and rapid preparation of a probe pool for region-specific FISH, and is useful for the diagnosis of chromosome abnormalities of unknown origin.

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References

Senger G, Ludecke H, Horsthemke B, Claussen U . Microdissection of banded human chromosomes. Hum Genet. 1990; 84(6):507-11. DOI: 10.1007/BF00210799. View

Saltman D, Dolganov G, Pearce B, Kuo S, Callahan P, Cleary M . Isolation of region-specific cosmids from chromosome 5 by hybridization with microdissection clones. Nucleic Acids Res. 1992; 20(6):1401-4. PMC: 312189. DOI: 10.1093/nar/20.6.1401. View

Trautmann U, Leuteritz G, Senger G, Claussen U, Ballhausen W . Detection of APC region-specific signals by nonisotopic chromosomal in situ suppression (CISS)-hybridization using a microdissection library as a probe. Hum Genet. 1991; 87(4):495-7. DOI: 10.1007/BF00197175. View

Deng H, Yoshiura K, Dirks R, Harada N, Hirota T, Tsukamoto K . Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool. Hum Genet. 1992; 89(1):13-7. DOI: 10.1007/BF00207034. View

Hirota T, Tsukamoto K, Deng H, Yoshiura K, Ohta T, Tohma T . Microdissection of human chromosomal regions 8q23.3-q24.11 and 2q33-qter: construction of DNA libraries and isolation of their clones. Genomics. 1992; 13(2):349-54. DOI: 10.1016/0888-7543(92)90252-n. View

Djabali M, Nguyen C, Biunno I, Oostra B, Mattei M, Ikeda J . Laser microdissection of the fragile X region: identification of cosmid clones and of conserved sequences in this region. Genomics. 1991; 10(4):1053-60. DOI: 10.1016/0888-7543(91)90198-n. View

Tharapel A, Qumsiyeh M, Martens P, Tharapel S, Dalton J, Ward J . Identification of the origin of centromeres in whole-arm translocations using fluorescent in situ hybridization with alpha-satellite DNA probes. Am J Med Genet. 1991; 40(1):117-20. DOI: 10.1002/ajmg.1320400125. View

Trask B . Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet. 1991; 7(5):149-54. DOI: 10.1016/0168-9525(91)90378-4. View

Kao F, Yu J . Chromosome microdissection and cloning in human genome and genetic disease analysis. Proc Natl Acad Sci U S A. 1991; 88(5):1844-8. PMC: 51122. DOI: 10.1073/pnas.88.5.1844. View

10.

Cremer T, Popp S, Emmerich P, Lichter P, Cremer C . Rapid metaphase and interphase detection of radiation-induced chromosome aberrations in human lymphocytes by chromosomal suppression in situ hybridization. Cytometry. 1990; 11(1):110-8. DOI: 10.1002/cyto.990110113. View

11.

Jinno Y, Harada N, Yoshiura K, Ohta T, Tohma T, Hirota T . A simple and efficient amplification method of DNA with unknown sequences and its application to microdissection/microcloning. J Biochem. 1992; 112(1):75-80. DOI: 10.1093/oxfordjournals.jbchem.a123869. View

12.

Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J . Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci U S A. 1988; 85(23):9138-42. PMC: 282679. DOI: 10.1073/pnas.85.23.9138. View

13.

Plattner R, Heerema N, Patil S, Palmer C . Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization. Hum Genet. 1991; 87(3):290-6. DOI: 10.1007/BF00200906. View

14.

Kuo W, Tenjin H, Segraves R, Pinkel D, Golbus M, Gray J . Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. Am J Hum Genet. 1991; 49(1):112-9. PMC: 1683225. View

15.

Suijkerbuijk R, van de Veen A, van Echten J, Buys C, de Jong B, Oosterhuis J . Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization. Am J Hum Genet. 1991; 48(2):269-73. PMC: 1683009. View

16.

Johnson D . Molecular cloning of DNA from specific chromosomal regions by microdissection and sequence-independent amplification of DNA. Genomics. 1990; 6(2):243-51. DOI: 10.1016/0888-7543(90)90563-a. View

17.

Mezzanotte R, Vanni R, Flore O, Ferrucci L, Sumner A . Ageing of fixed cytological preparations produces degradation of chromosomal DNA. Cytogenet Cell Genet. 1988; 48(1):60-2. DOI: 10.1159/000132588. View

18.

Jauch A, Daumer C, Lichter P, MURKEN J, Cremer T . Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics. Hum Genet. 1990; 85(2):145-50. DOI: 10.1007/BF00193186. View

19.

Blennow E, NIELSEN K . Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84. Clin Genet. 1991; 39(6):429-33. DOI: 10.1111/j.1399-0004.1991.tb03054.x. View

20.

Ludecke H, Senger G, Claussen U, Horsthemke B . Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification. Nature. 1989; 338(6213):348-50. DOI: 10.1038/338348a0. View