Patternf the (At)<sub>X</sub>T<sub>Y</sub>Motif At The -530 Region 5′ To The β-Globin Gene In The Chinese Population

Zhou, Guangying; Mj, Chen; Zr, Ren; Sz, Huang; Yt, Zeng

doi:10.3109/03630269509005821

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…The same haplotype has been reported in Chinese (Zhou et al 1995). Thus, HbE variants in the studied Thai population and Chinese may have the same origin (i.e., the HbE mutation may have occurred on a chromosome containing the (AT) 9 (T) 5 repeat and rapidly spread into Southeast Asia) although HbE variants with different origins are suggested to exist in Thailand (Fucharoen et al 2002).…”

Section: Discussionsupporting

confidence: 66%

“…The HbE variant was reported to be on the chromosome with (AT) 7 (T) 7 or (AT) 9 (T) 5 in the Chinese population (Zhou et al 1995). However, it is uncertain whether or not the HbE in the Thai population is also in linkage disequilibrium with these (AT) x (T) y alleles because HbE in Southeast Asia has been suggested to have multiple origins .…”

Section: Introductionmentioning

confidence: 99%

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Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population

et al. 2004

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A binding site for the repressor protein BP1, which contains a tandem (AT) x (T) y repeat, is located approximately 530 bp 5¢ to the human b-globin gene (HBB). There is accumulating evidence that BP1 binds to the (AT) 9 (T) 5 allele more strongly than to other alleles, thereby reducing the expression of HBB. In this study, we investigated polymorphisms in the (AT) x (T) y repeat in 57 individuals living in Thailand, including three homozygotes for the hemoglobin E variant (HbE; b 26Glu->Lys), 22 heterozygotes, and 32 normal homozygotes. We found that (AT) 9 (T) 5 and (AT) 7 (T) 7 alleles were predominant in the studied population and that the HbE variant is in strong linkage disequilibrium with the (AT) 9 (T) 5 allele, which can explain why the b E

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Section: Discussionsupporting

confidence: 66%

Section: Introductionmentioning

confidence: 99%

Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population

et al. 2004

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“…In recent years, DNA sequence variation in the intergenic domain upstream of the ␤-globin gene has attracted an increased attention. A large group of studies have accumulated in the last few years, most of which aimed at deducing the possible origins of some ␤-globin gene mutations through the analysis of several nucleotide polymorphisms and the (AT) x T y motif 5Ј to the ␤-globin gene [10][11][12]18,19]. In order to deduce a possible origin for the IVS-I-130 (G-A) mutation, we have characterized sequence polymorphisms in the DNA of our patient and her family.…”

Section: Discussionmentioning

confidence: 99%

A rare mutation [IVS-I-130 (G-A)] in a Turkish ?-thalassemia major patient

Tadmouri

Bilenoğlu

Kantarci³

et al. 2000

Am. J. Hematol.

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Here we describe the identification of the rare beta-thalassemia mutation IVS-I-130 (G-A) for the first time in Turkey. The hematological evaluation of the patient showed classical signs of beta-thalassemia major requiring regular blood transfusions every 30-35 days. DNA analysis was carried out using reverse dot-blot hybridization and restriction endonuclease digestion, as well as genomic sequencing. The patient was found to be heterozygous for the IVS-I-6 (T-C) and IVS-I-130 (G-A) mutations. In order to deduce a possible origin for the IVS-I-130 (G-A) mutation, the sequence polymorphisms in the DNA of the patient and her family were characterized. The method included the analysis of nine polymorphic nucleotides and the hypervariable microsatellite of composite sequence (AT)(x)T(y) 5' to the beta-globin gene by DNA sequencing. The sequence haplotype (HT4) carrying the IVS-I-130 (G-A) mutation is also observed in Algeria. This favors a Northeastern African origin for this allele. The observed results agree well with a recent introduction of this mutation to Turkey from Egypt toward the end of the 19th century.

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Functional Role of the Four Different Types of (AT)XTY Motifs 5′ to the β-Globin Gene and Their Distribution in the Greek Population

Kalotychou

Kollia

Voskaridou

et al. 2002

Blood Cells, Molecules, and Diseases

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Patternf the (At)_XT_YMotif At The -530 Region 5′ To The β-Globin Gene In The Chinese Population

Cited by 5 publications

References 11 publications

Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population

Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population

A rare mutation [IVS-I-130 (G-A)] in a Turkish ?-thalassemia major patient

Functional Role of the Four Different Types of (AT)XTY Motifs 5′ to the β-Globin Gene and Their Distribution in the Greek Population

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Patternf the (At)XTYMotif At The -530 Region 5′ To The β-Globin Gene In The Chinese Population

Cited by 5 publications

References 11 publications

Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population

Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population

A rare mutation [IVS-I-130 (G-A)] in a Turkish ?-thalassemia major patient

Functional Role of the Four Different Types of (AT)XTY Motifs 5′ to the β-Globin Gene and Their Distribution in the Greek Population

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Patternf the (At)_XT_YMotif At The -530 Region 5′ To The β-Globin Gene In The Chinese Population