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Your search keyword '"Su-Ching Liu"' showing total 9 results
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9 results on '"Su-Ching Liu"'

1. Hb G-HONOLULU [α30(B11)Glu→Gln (α2)], Hb J-MEINUNG [β56(D7)Gly→Asp], ANDβ-THALASSEMIA [CODONS 41/42 (—TCTT)] IN A TAIWANESE FAMILY

Author

Su-Ching Liu, Tai-Ping Lee, Wen-Ling Chan, Jan-Gowth Chang, Ching-Tien Peng, Mu-Chin Shih, and Chih-Mei Chen

Subjects
Family health, Chemistry, Biochemistry (medical), Clinical Biochemistry, Beta thalassemia, Amino acid substitution, Hematology, Gene deletion, medicine.disease, Molecular biology, Hb G-Honolulu, Hb J-Meinung, medicine, Hemoglobin, Hemoglobin J, Genetics (clinical)
Abstract

β-Thalassemia (thal) patients with both α and β hemoglobin (Hb) variant genotypes are very rare. We recently studied a Taiwanese family in which the mother was a carrier of β-thal with an α chain v...

Published
2002
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2. UNSTABLE Hb PERTH IN A TAIWANESE SUBJECT: A T → C SUBSTITUTION AT CODON 32 OF THE β-GLOBIN GENE CREATES ANMspI SITE

Author

Mu Chin Shih, Hsi Che Liu, Su Ching Liu, Jan-Gowth Chang, Wen Ling Chan, and Fuu Jen Tsai

Subjects
Male, Protein Denaturation, Hemoglobins, Abnormal, Clinical Biochemistry, Mutation, Missense, Taiwan, β globin gene, Biology, medicine.disease_cause, Polymerase Chain Reaction, Deoxyribonuclease HpaII, Polymorphism (computer science), medicine, Humans, Point Mutation, Missense mutation, Child, Codon, Genetics (clinical), Genetics, Mutation, Point mutation, Biochemistry (medical), Substitution (logic), Amino acid substitution, Hematology, Molecular biology, Globins, Amino Acid Substitution, Polymorphism, Restriction Fragment Length
Published
2002
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3. Hb Tak: A β Chain Elongation at the End of the β Chain, in a Taiwanese

Author

Su Ching Liu, Mu Chin Shih, Kang His Wu, and Jan-Gowth Chang

Subjects
Chain (algebraic topology), Stereochemistry, Chemistry, Biochemistry (medical), Clinical Biochemistry, Hematology, Hemoglobin, Elongation, Molecular biology, Genetics (clinical)
Abstract

Hemoglobin (Hb) variants caused by an elongation of the β-globin chain are rare. In this study, we present the first case of Hb Tak in a Taiwanese. Hb Tak is caused by an insertion of the dinucleot...

Published
2005
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4. Hb Prato [α31(B12)Arg→Ser (α2)] and α‐Thalassemia in a Taiwanese

Author

Jan-Gowth Chang, Mu Chin Shih, Jan Yi Chang, Ching-Tien Peng, Su Ching Liu, and Pao-Lin Kuo

Subjects
business.industry, Thalassemia, Biochemistry (medical), Clinical Biochemistry, medicine, Hematology, Hemoglobin, medicine.disease, business, Molecular biology, Genetics (clinical)
Abstract

Hb Prato [α31(B12)Arg→Ser] was discovered in an Italian family in 1978 by Marinucci et al. [[1]], and subsequently by De Marco et al. in 1992 [[2]] in a Calabrian family. This hemoglobin (Hb) varia...

Published
2003
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5. Hb G-CHINESE: A G → C SUBSTITUTION AT CODON 30 OF THE α2-GLOBIN GENE CREATES APstI CUTTING SITE

Author

Jan-Gowth Chang, Chih-Mei Chen, Ching-Tien Peng, Mu-Chin Shih, Wen-Ling Chan, and Su-Ching Liu

Subjects
Genetics, Hemoglobins, Abnormal, Biochemistry (medical), Clinical Biochemistry, Substitution (logic), Mutation, Missense, Hematology, Biology, Molecular biology, Globins, Substrate Specificity, Hb G-Chinese, PstI, Amino Acid Substitution, biology.protein, Humans, Point Mutation, Chinese family, Globin gene, Codon, Deoxyribonucleases, Type II Site-Specific, Polymorphism, Restriction Fragment Length, Genetics (clinical)
Abstract

Hb G-Honolulu (also known as G-Singapore, G-Chinese, and G-Hong Kong) [α30(B11)Glu → Gln] was determined in a Chinese family by Vella et al. [[1]] in 1958, and subsequently found in several Chinese...

Published
2002
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6. Molecular lesion frequency of hemoglobin gene disorders in Taiwan

Author

Ching-Tien Peng, Su-Ching Liu, Mu-Chin Shih, Ni Tien, Tsai-Hsiu Lin, Jang-Jih Lu, Shiow-Jain Wang, Chien-Yu Lin, and Chao-Chin Chang

Subjects
Male, Thalassemia, Hemoglobins, Abnormal, Clinical Biochemistry, Taiwan, Prenatal diagnosis, Biology, medicine.disease_cause, Southeast asian, Polymorphism, Single Nucleotide, Gene Frequency, Pregnancy, Prenatal Diagnosis, medicine, Humans, Allele frequency, Molecular lesion, Genetics (clinical), Sequence Deletion, Fetus, Mutation, Data Collection, Biochemistry (medical), Hematology, medicine.disease, Molecular biology, Hemoglobinopathies, Female, Hemoglobin
Abstract

Hemoglobin (Hb) gene disorders are common inherited diseases in Taiwan. The α- and β-thalassemias are among the well-known Hb diseases in this area. We reviewed abnormal hematological data in 3578 cases, identified between 1998 and 2009, as being at-risk for α-thalassemia (α-thal) (n = 1909; 53.3%), β-thal (n = 743; 20.8%), non-α, β-thal (n = 872; 24.4%), and α-thal combined with β-thal (n = 54; 1.5%), and collected fetal blood samples for prenatal testing. The most common types of α(0)- and α(+)-thal were the SEA (Southeast Asian) deletion and the -α(3.7) rightward deletion, with frequencies of 87.79 and 4.85%, respectively. The frequency of the IVS-II-654 (C>T) mutation, the most common β-thal mutation in this region, was 38.6%. Hb E [β26(B8)Glu→Lys, GAG>AAG] was found to be the most common Hb variant, and it was concluded that Hb Tak [β147 (+AC)], Hb G -Taichung (also known as Hb Q-Thailand) [α74(EF3)Asp→His, GAC>CAC (α1)], Hb Owari [α121(H4)Val→Met (GTG>ATG)], and Hb Phnom Penh [α117(GH5)Phe-Ile-α118(H1)Thr (α1)] were very rare. The results of this study provide a primary reference for designing a locally relevant antenatal diagnostic test for controlling the spread of thalassemia.

Published
2011

7. Hb MANITOBA IN A TAIWANESE FAMILY: A C → A SUBSTITUTION AT CODON 102 OF THE α2-GLOBIN GENE

Author

Mu-Chin Shih, Ching-Tien Peng, Wen-Ling Chan, Jan-Gowth Chang, and Su-Ching Liu

Subjects
Electrophoresis, Family Health, Genetics, Heterozygote, Hemoglobins, Abnormal, Biochemistry (medical), Clinical Biochemistry, Substitution (logic), Taiwan, Genetic Variation, Hematology, Biology, Polymerase Chain Reaction, Molecular biology, Globins, Amino Acid Substitution, Humans, Point Mutation, Hb Manitoba, Globin gene, DNA Probes, Genetics (clinical)
Published
2001
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8. Hb Tak: a beta chain elongation at the end of the beta chain, in a Taiwanese

Author

Mu-Chin, Shih, Kang-His, Wu, Su-Ching, Liu, and Jan-Gowth, Chang

Subjects
Male, Mutagenesis, Insertional, Open Reading Frames, Hemoglobins, Abnormal, Taiwan, Humans, Female, Protein Structure, Secondary
Abstract

Hemoglobin (Hb) variants caused by an elongation of the beta-globin chain are rare. In this study, we present the first case of Hb Tak in a Taiwanese. Hb Tak is caused by an insertion of the dinucleotides AC into codon 146 that abolishes the normal stop codon at position 147. This insertion results in a frameshift causing elongation of the beta chain by 11 amino acids.

Published
2005

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