The novo 4 BP deletion in the codons 20/21 (?TGGA) at the first exon of the β-globin gene causing a β0-thalassemia in a Spanish male

Paloma Ropero; Fernando Ataulfo González; Jose Manuel Calvo Villas; Rosa Paúl; Ana Villegas

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The novo 4 BP deletion in the codons 20/21 (?TGGA) at the first exon of the β-globin gene causing a β0-thalassemia in a Spanish male

机译：β-珠蛋白基因第一个外显子的20/21（？TGGA）密码子中的novo 4 BP缺失导致西班牙男性的β0地中海贫血

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来源
《Annals of Hematology》 |2008年第1期|63-65|共3页
作者
Paloma Ropero; Fernando Ataulfo González; Jose Manuel Calvo Villas; Rosa Paúl; Ana Villegas;
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Servicio de Hematología y Hemoterapia Hospital Clínico San Carlos C/ Profesor Martín Lagos s 28040 Madrid Spain;

Servicio de Hematología y Hemoterapia Hospital Clínico San Carlos C/ Profesor Martín Lagos s 28040 Madrid Spain;

Servicio de Hematología y Hemoterapia Hospital General de Lanzarote Lanzarote Spain;

Servicio de Hematología y Hemoterapia Hospital Clínico San Carlos C/ Profesor Martín Lagos s 28040 Madrid Spain;

Servicio de Hematología y Hemoterapia Hospital Clínico San Carlos C/ Profesor Martín Lagos s 28040 Madrid Spain;

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1. The novo 4 BP deletion in the codons 20/21 (-TGGA) at the first exon of the beta-globin gene causing a beta0-thalassemia in a Spanish male. [J] . Ropero P, Gonzalez FA, Villas JM, Annals of hematology . 2008,第1期

机译：β-珠蛋白基因第一个外显子的密码子20/21（-TGGA）中的novo 4 BP缺失导致西班牙男性的β0地中海贫血。
2. A novel 26 bp deletion [HBB: C.20-45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major [J] . EdisonE.S., VenkatesanR.S., GovindanattarS.D., Hemoglobin: International Journal for Hemoglobin Research . 2012,第1期

机译：β-珠蛋白基因外显子1中新的26 bp缺失[HBB：C.20-45del26bp]
3. The 3' breakpoint of the yunnanese (Agammadeltabeta)0-thalassemia deletion lies in an L1 family sequence: implications for the mechanism of deletion and the reactivation of the Ggamma-globin gene. [J] . Zhang XQ, Zhang JW Human Genetics . 1998,第1期

机译：云南的（Agammadeltabeta）0地中海贫血缺失的3'断裂点位于L1家族序列中：这对缺失机制和Ggamma-globin基因的重新激活具有重要意义。
4. Low fetal hemoglobin rates in patients carrying Thai (δβ)0-deletion and Turkish (δβ)0-deletion/inversion strengthen the hypothesis that the 5′δ BCL11A binding site plays a major role in its fetal hemoglobin inhibitory regulation. Response to The 12.6 kb-deletion in the β-globin gene cluster is the known Thai/Vietnamese (δβ)0-thalassemia commonly found in Southeast Asia [O] . Elyes Slim Ghedira, Serge Pissard 2013

机译：携带Thai（δβ）0缺失和土耳其语（δβ）0缺失/倒置的患者的胎儿血红蛋白率低强化了以下假设：5δBCL11A结合位点在其胎儿血红蛋白抑制调节中起主要作用。对β-珠蛋白基因簇中12.6 kb的缺失是东南亚常见的已知泰国/越南（δβ）0地中海贫血的回应
5. Dominantly inherited β thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the β globin gene: Hb morgantown (β91 CTG>CG) [O] . Luo, H-Y, Tang, W, Eung, S H, 2005

机译：由β珠蛋白基因第2外显子中的新单核苷酸缺失导致的显性遗传β地中海贫血中间产物（Hb morgantown（β91CTG> CG）

The novo 4 BP deletion in the codons 20/21 (?TGGA) at the first exon of the β-globin gene causing a β0-thalassemia in a Spanish male

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