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Tay-Sachs carrier screening in the genomics age: Gene sequencing versus enzyme analysis in non-Jewish individuals

Open Journal of genetics 2013年第1期3卷 61-66页

作者： Charles M. Strom Noh Jin Park Craig Morgan Raynah Lobo Beryl Crossley Rajesh Sharma Reuben Bonilla-Guerrero Denise Salazar department of genetics quest diagnsotics nichols institute San Juan Capistrano USA

Purpose: To compare the sensitivity of Hexosaminidase A (HexA) enzyme-based testing to gene sequencing for carrier detection in non-Jewish individuals. Methods: Blood samples were obtained from parents and relatives of affected patients at an annual Tay-Sachs and Allied Diseases Foundation meeting. A family history was taken for each individual. Samples were analyzed for leukocyte HexA activity, serum HexA activity and subjected to extensive gene sequencing. The results from these analyses were combined with our previously published data describing 34 obligate Tay-Sachs disease (TSD) carriers. Results: Twelve additional TSD carriers were detected in this study. Gene sequencing successfully identified all 12 carriers whereas enzyme analysis identified 11 of 12 carriers. This individual is a carrier of the B1 variant that is known to cause false negative results with enzyme testing. Combined data from 46 non-Jewish TSD carriers revealed that gene sequencing had a higher sensitivity rate than HexA enzyme-based testing (94% versus 87%) in non-Jewish TSD carriers. In our series, approximately 4% of non-Jewish TSD carriers have this mutation. Conclusions: HexA gene sequencing provides a higher sensitivity for TSD carrier detection than HexA based enzyme analysis in non-Jewish patients primarily due to the presence of individuals with the B1 variant.

关键词： Tay-Sachs Screening Gene Sequencing Hexosaminidase A

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北京大学学报（医学版） 2006年第1期38卷 57-61页

作者： Gary LU John ZHANG Katherine PAUPER department of Pathology and genetics USLabs/LabCorp Irvine California 91612 USA department of Hematology/Oncology Quest Diagnostics/Nichols Institute San Juan Capistrano CA 92692 USA

Objective: To study the frequency of interstitial 7q deletions in B-cell lymphoproliferative disorders (B-LPDs). Methods: Cases were collected from the clinical laboratory diagnosis database at USLabs/LabCorp over the past two years (2002 to 2004). Cases that showed deletions in the long arm of chromosome 7 were then reviewed. Interstitial deletions in the long arm of chromosome 7 were further investigated according to the indications for clinical laboratory studies and flow cytometry findings. The final clinical diagnosis for each case was obtained from the referring physician. Results: A total of 19 483 cases were included in this series. Eighty-five cases were observed to have either terminal or interstitial deletion in the long arm of chromosome 7. Of the 85 cases, 46 had interstitial deletions accounting for 54.1% of the 7q deletions combined. B-LPDs were found in 10 of the 46 cases, accounting for 21.7%. The B-LPDs associated with 7q interstitial deletions were diverse, including B-cell chronic lymphocytic leukemia (B-CLL) in five cases. The deleted region in the long arm of chromosome 7 in the 10 cases associated with B-LPDs was solely confined to the 7q22-q32 region. Conclusion: (1) The frequency of 7q interstitial deletions associated with B-LPDs is substantially high; (2) 7q interstitial deletions are not uncommon in B-CLL.

关键词：染色体缺失染色体白血病 B细胞慢性流式细胞术 7号染色体血液肿瘤 B淋巴细胞增生障碍

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