Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36.

The development of some endocrine tumours, such as medullary thyroid carcinomas, phaeochromocytomas, anterior pituitary adenomas, and parathyroid adenomas involve a putative tumour suppressor gene located on chromosome 1p32-pter, a region that represents 111 cM. In order to refine the location of this gene, 93 endocrine tumours (39 parathyroid adenomas, 40 anterior pituitary adenomas, seven pancreatic islet cell adenomas, and seven carcinoids) were investigated for loss of tumour heterozygosity (LOH) using the seven polymorphic loci 1pter-D1S228-D1S507-D1S234-D1S476-D1S22 0-D1S207-D1S206-1cen. LOH was detected in 27% of the parathyroid tumours and in 7.5% of the pituitary tumours, but in none of the pancreatic islet cell or carcinoid tumours. In addition, seven of the 10 parathyroid tumours that showed LOH of chromosome 1p facilitated a more precise mapping of this putative tumour suppressor gene; five tumours involved a loss only of the telomeric locus D1S228, whereas two other tumours showed LOH at the centromeric loci D1S507, D1S234, D1S476, and D1S220, but not D1S228. Thus, our results have mapped this tumour suppressor gene implicated in endocrine tumours to a 4 cM region flanked by D1S228 and D1S507 on chromosome 1p35-p36.     

Linkage studies of bipolar disorder in the region of the Darier's disease gene on chromosome 12q23-24.1

We have recently described a family in which there is cosegregation of major affective disorder with Darier's disease and have mapped this autosomal dominant skin disorder to 12q23-q24.1. This has provided an interesting candidate region for genetic studies of bipolar disorder. We have studied the segregation of seven markers spanning the Darier's disease locus in 45 bipolar disorder pedigrees and found modest evidence in support of linkage under heterogeneity for 5 of these markers. Nonparametric analyses were suggestive of linkage with a marker at the gene encoding a secretory form of phospholipase A2. Our sample has relatively low power to detect linkage under heterogeneity and independent researchers should examine markers from this region in further samples of bipolar pedigrees. © 1995 Wiley-Liss, Inc.     

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.     

应用Affymetrix全基因组芯片检测染色体7q36区域的DNA拷贝数突变

Objectives To refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndaetyly syndrome and syndactyly type Ⅳ using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR). Methods Genomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping Console 3. 0. The qPCR assay was carried out using the AACT method to validate the duplication. Results With use of the combined approach, we were able to narrow down the breakpoint intervals from 113 kb and 33 kb to 5.4 kb and 1.8 kb, respectively. These allowed us to refine the extent of the 7q36 duplication from 291-437 kb to 379-387kb. Conclusion Screening with the Affymetrix Genome-Wide Human SNP Array 6. 0 followed by the validation using qPCR is a reliable approach for high-resolution detection of copy number mutations.     

应用Affymetrix全基因组芯片检测染色体7q36区域的DNA拷贝数突变

Objectives To refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndaetyly syndrome and syndactyly type Ⅳ using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR). Methods Genomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping Console 3. 0. The qPCR assay was carried out using the AACT method to validate the duplication. Results With use of the combined approach, we were able to narrow down the breakpoint intervals from 113 kb and 33 kb to 5.4 kb and 1.8 kb, respectively. These allowed us to refine the extent of the 7q36 duplication from 291-437 kb to 379-387kb. Conclusion Screening with the Affymetrix Genome-Wide Human SNP Array 6. 0 followed by the validation using qPCR is a reliable approach for high-resolution detection of copy number mutations.     

应用Affymetrix全基因组芯片检测染色体7q36区域的DNA拷贝数突变

Objectives To refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndaetyly syndrome and syndactyly type Ⅳ using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR). Methods Genomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping Console 3. 0. The qPCR assay was carried out using the AACT method to validate the duplication. Results With use of the combined approach, we were able to narrow down the breakpoint intervals from 113 kb and 33 kb to 5.4 kb and 1.8 kb, respectively. These allowed us to refine the extent of the 7q36 duplication from 291-437 kb to 379-387kb. Conclusion Screening with the Affymetrix Genome-Wide Human SNP Array 6. 0 followed by the validation using qPCR is a reliable approach for high-resolution detection of copy number mutations.     

应用Affymetrix全基因组芯片检测染色体7q36区域的DNA拷贝数突变

Objectives To refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndaetyly syndrome and syndactyly type Ⅳ using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR). Methods Genomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping Console 3. 0. The qPCR assay was carried out using the AACT method to validate the duplication. Results With use of the combined approach, we were able to narrow down the breakpoint intervals from 113 kb and 33 kb to 5.4 kb and 1.8 kb, respectively. These allowed us to refine the extent of the 7q36 duplication from 291-437 kb to 379-387kb. Conclusion Screening with the Affymetrix Genome-Wide Human SNP Array 6. 0 followed by the validation using qPCR is a reliable approach for high-resolution detection of copy number mutations.     

应用Affymetrix全基因组芯片检测染色体7q36区域的DNA拷贝数突变

Objectives To refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndaetyly syndrome and syndactyly type Ⅳ using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR). Methods Genomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping Console 3. 0. The qPCR assay was carried out using the AACT method to validate the duplication. Results With use of the combined approach, we were able to narrow down the breakpoint intervals from 113 kb and 33 kb to 5.4 kb and 1.8 kb, respectively. These allowed us to refine the extent of the 7q36 duplication from 291-437 kb to 379-387kb. Conclusion Screening with the Affymetrix Genome-Wide Human SNP Array 6. 0 followed by the validation using qPCR is a reliable approach for high-resolution detection of copy number mutations.     

应用Affymetrix全基因组芯片检测染色体7q36区域的DNA拷贝数突变

Objectives To refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndaetyly syndrome and syndactyly type Ⅳ using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR). Methods Genomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping Console 3. 0. The qPCR assay was carried out using the AACT method to validate the duplication. Results With use of the combined approach, we were able to narrow down the breakpoint intervals from 113 kb and 33 kb to 5.4 kb and 1.8 kb, respectively. These allowed us to refine the extent of the 7q36 duplication from 291-437 kb to 379-387kb. Conclusion Screening with the Affymetrix Genome-Wide Human SNP Array 6. 0 followed by the validation using qPCR is a reliable approach for high-resolution detection of copy number mutations.