Výsledky vyhledávání - "Shi-ping Cai"

A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory

Autor: Jeffrey D. Wall, Shi-Ping Cai, Farid F. Chehab

Publikováno v: Human Mutation. 5:333-338

We devised a set of allele-specific probes to detect simultaneously 31 known cystic fibrosis mutations using PCR and the reverse dot blot detection format. The assay has been implemented in a clinical setting to the screening of over 750 individuals.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2497bcbdc7050cdd53ea778b9f5737d7
https://doi.org/10.1002/humu.1380050411

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Prenatal diagnosis of unusual hemoglobinopathies

Autor: Xia Su, Mitchell S. Golbus, William C. Mentzer, Roger V. Lebo, Jong Hwa Kim, Shi-Ping Cai, Jae-Hyun Chung

Publikováno v: American Journal of Medical Genetics. 50:15-20

While analyzing 280 hemoglobinopathy kindreds with prescribed molecular tests, 3 unusual mutations were observed that required additional characterization. In the first case, the hypervariable region flanking the alpha-globin genes generated an inter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eacac602b89a3c8462805a1626f00694
https://doi.org/10.1002/ajmg.1320500104

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Reverse dot blot probes for the screening of β-thalassernia mutationsin Asians and American blacks

Autor: Jeffrey D. Wall, Shi-Ping Cai, Farid F. Chehab, Yuet Wai Kan

Publikováno v: Human Mutation. 3:59-63

We have optimized a battery of reverse dot blot oligonucleotide probes for detecting the most common beta-globin gene mutations in Asians and American Blacks. These probes allow a high degree of coverage of mutant chromosomes in these two populations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01ca6489257ad8d250dcfd2adbae9590
https://doi.org/10.1002/humu.1380030110

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Expression of embryonic zeta-globin and epsilon-globin chains in a 10- year-old girl with congenital anemia

Autor: David H.K. Chui, Wozhan Tang, Barry Eng, John S. Waye, Shi-Ping Cai, Man-Chiu Poon, N. Illum

Publikováno v: Blood. 81:1636-1640

A 10-year-old Danish girl with congenital anemia is described. At birth, she had severe anemia and erythroblastosis and was transfused a number of times during the first year. The need for transfusions has since declined steadily. Her reticulocyte co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9ff1953a1833a2eb635a5b326c290d8f
https://doi.org/10.1182/blood.v81.6.1636.1636

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Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily

Autor: Antonino Giambona, Yuet Wai Kan, Jeffrey D. Wall, Shi-Ping Cai, Farid F. Chehab, Aurelio Maggio

Publikováno v: Blood. 81:239-242

The molecular lesions causing beta-thalassemia in Sicily can be subdivided into two groups. One that occurs at a 71% frequency and consists of the beta 39, IVS 1,110 and IVS 1,6 mutations and the other group at a 20% frequency comprising the -87, bet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::65fc721f2a78e61ce580e36a5446ca1a
https://doi.org/10.1182/blood.v81.1.239.239

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Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments]

Autor: David H.K. Chui, Alan G. Kendall, William H. Francombe, Nancy F. Olivieri, Shi-Ping Cai, John S. Waye, Barry Eng

Publikováno v: Blood. 79:1342-1346

Two novel beta-thalassemia mutations are described. The first mutation, found in an Italian family, is a G----A substitution in nucleotide (nt) +22 relative to the beta-globin gene Cap site. This mutation creates a cryptic ATG initiation codon, the u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::281e79d89a6f10adda88734e57879b7e
https://doi.org/10.1182/blood.v79.5.1342.1342

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Hb S/β°-Thalassemia due to the ˜1.4-kb deletion is associated with a relatively mild phenotype

Autor: M. B. Coleman, Shi-Ping Cai, David H.K. Chui, Barry Eng, Martin H. Steinberg, John S. Waye, Junius G. Adams

Publikováno v: American Journal of Hematology. 38:108-112

We report a relatively mild phenotype associated with two siblings who are compound heterozygotes for Hb S and a beta zero-thalassemia mutation due to a approximately 1.4-kb deletion of the 5' region of the beta-globin gene. Each is found to have unu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b0a1c7d1ead843b74c762cdca6e67cbc
https://doi.org/10.1002/ajh.2830380207

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