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| MOLECULAR CYTOGENETIC CHARACTERIZATION OF 17-ROB(13Q14Q) ROBERTSONIAN TRANSLOCATIONS BY FISH, NARROWING THE REGION CONTAINING THE BREAKPOINTS |
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| Author(s): HAN JY, CHOO KHA, SHAFFER LG |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 55 Issue: 5 Pages: 960-967 Published: NOV 1994 |
| Times Cited: 25 References: 30 |
| Abstract: We have characterized 17 rob(13q14q) Robertsonian translocations, using six molecular probes that hybridize to the repetitive sequences of the centromeric and short-arm regions of the five acrocentric chromosomes by FISH. The rearrangements include six de novo rearrangements and the chromosomally normal parents, five maternally and three paternally inherited translocations, and three translocations of unknown origin. The D21Z1/D13Z1 and D14Z1/D22Z1 centromeric alpha-satellite DNA probes showed all rob(13q14q) chromosomes to be dicentric. The rDNA probes did not show hybridization on any of the 17 cases studied. The pTRS-47 satellite III DNA probe specific for chromosomes 14 and 22 was retained around the breakpoints in all cases. However, the pTRS-63 satellite III DNA probe specific for chromosome 14 did not show any signals on the translocation chromosomes examined. In 16 of 17 translocations studied, strong hybridization signals on the translocations were detected with the pTRI-6 satellite I DNA probe specific for chromosome 13. All parents of the six de novo rob(13q14q), including one whose pTRI-6 sequence was lost, showed strong positive hybridization signals on each pair of chromosomes 14 and 13, with pTRS-47, pTRS-63, and pTR1-6. Therefore, the translocation breakpoints in the majority of rob(13q14q) are between the pTRS-47 and pTRS-63 sequences in the pll region of chromosome 14 and between the pTRI-6 and rDNA sequences within the pll region of chromosome 13. |
| Document Type: Article |
| Language: English |
Addresses:
1. BAYLOR COLL MED, DEPT MOLEC & HUMAN GENET, HOUSTON, TX 77030 USA
2. DONG A UNIV, COLL MED, DEPT CLIN PATHOL, PUSAN, SOUTH KOREA
3. ROYAL CHILDRENS HOSP, MURDOCH INST RES BIRTH DEFECTS, MELBOURNE, VIC AUSTRALIA |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: QB682 |
| ISSN: 0002-9297 |
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