Idiopathic pulmonary fibrosis can be an autosomal dominant trait in some families.
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Humans↗
Biomedical subjects
A Marney
Publications and source records attributed to A Marney.
Microsatellite instability in sacral chordoma.
BACKGROUND AND OBJECTIVES: Microsatellite instability (MIN) is an indirect marker of globally defective DNA mismatch repair in the neoplastic cells of cancer patients. Chordomas are rare, primary skeletal malignancies for which few characteristic molecular genetic markers have been identified. Is MIN demonstratable in chordoma? METHODS: We evaluated sacral chordomas from 12 patients with sacral chordomas for the presence of MIN at 9 different genetic loci from chromosomes 1p, 5q, 7q, 9p, 11p, 12p, 13q, 17p, and 18q. Cells were scraped from glass slides so that tumor and control DNA could be isolated and then amplified by polymerase chain reaction (PCR). Heterozygosity indices were >/= 0.70. RESULTS: Six patients (50%) demonstrated MIN for at least 1 locus, and 2 patients demonstrated loss of heterozygosity (LOH) for at least 1 locus. Only 1 individual's chordoma manifested microsatellite instability (MIN) and loss of heterozygosity (LOH). Another patient manifested no MIN but LOH at 9p and 18q. Interestingly, this individual had the most aggressive clinical cancer course, presenting with lymph node metastasis and succumbing to widespread metastatic disease. CONCLUSIONS: Chordomas can be added to the list of malignancies demonstrating MIN. LOH may prove to portend a worse prognosis than MIN when more tumors are examined.
Adult↗
Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome.
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Abnormalities, Multiple↗
Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities.
PURPOSE: To determine gene expression of five imprinted genes or transcripts from the 15q11-q13 chromosome region using reverse transcription polymerase chain reaction (RT-PCR) in a relatively large survey of Prader-Willi syndrome (PWS) and control subjects with several different chromosome 15 abnormalities. METHODS: RT-PCR was undertaken on mRNA isolated from tissue (e.g., mostly lymphoblasts) from 38 PWS and 10 control subjects. DNA primers were used for five imprinted genes or transcripts (ZNF127, SNRPN, PAR5, IPW, and PAR1) from 15q11-q13 and fibrillin, a control gene from 15q21. RESULTS: One PWS subject with maternal disomy 15 showed weak but detectable expression of PAR1, whereas SNRPN expression was detected in two PWS subjects [one with the 15q11-q13 deletion and one with a t(15;15) karyotype and maternal disomy 15], and the remaining typical PWS subjects showed no expression of the imprinted genes or transcripts. CONCLUSION: No obvious clinical differences were identified in those PWS subjects with weak expression of genes compared with those showing no expression. Although the reason(s) for weak expression is unknown, possible explanations include relaxation of imprinting caused by failure to reset the imprinted genes or transcripts in the maternal germ line or by postzygotic gene expression or undetected chromosome 15 mosaicism in the deletion PWS subjects. The timing, tissue source, and other factors relating to partial expression of genes that are thought to be imprinted may play a role in clinical variability and allow for a better understanding of molecular mechanisms in PWS and other abnormalities of proximal chromosome 15q.
Adolescent↗