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UGT1A1 gene; polymorphism; G6PD deficiency; neonatal jaundice; Panamanian

A relationship between the polymorphism in promoter region of the UGT1A1 gene and the development of jaundice has been demonstrated recently. This polymorphism leads to 30% of normal rate transcription initiation of UGT1A1 gene, thus decreasing the bilirubin glucuronidation. The combination of the G6PD deficiency and polymorphism in neonates and adults may causepronounced hyperbilirubinaemias. The aim of this study was to analyse the variations in the UGT1A1 gene promoter in Panamanians neonates with G6PD deficiency and its association with neonatal jaundice (NJ). We identified five different genotypes of TA repeats, in 17 neonates (42.5%) the normal variant TA₆/TA₆ and in the other 57.5% of the subjects: TA₇/TA₇ (12.5%), TA₆/TA₇ (40%), TA₆/TA₈ (2.5%) and TA₆/TA₅ (2.5%). Additionally 75% of the 16 newborns that showed NJ had an abnormal variant in the promotersequence, although, there was no significant difference (P = 0.068). The risk of jaundice in neonates with TA₇ variant was thrice higher in subjects than with other alleles (P = 0.093, CI: 0.81–11.67). The TA₇ allele frequency in this study (0.325) was consistent with the global frequency and similar to Caucasians. The results proved that there is no significant relationship between promoter polymorphism in UGT1A1 and NJ in G6PD deficient Panamanian newborns. Further studies with a greater number of subjects would determine the exact relationship between marked NJ and UGT1A promoter variations.

TERESA CHÁVEZ-PEÑA¹ ALEJANDRA MARTÍNEZ-CAMBEROS^{2 3} GLADYS COSSIO-GURROLA¹ ELIAKYM ARÁ MBULA-MERAZ⁴ INDIRA HERRERA-RODRÍGUEZ¹ ENRIQUE ROMO-MARTÍNEZ³ NOEMI GARCÍA-MAGALLANES³

1. Departamento de Genética, Hospital del Nin˜o de Panamá, Avenida Balboa, calle 34, Bella Vista, 0816-00383, Panamá , República de Panama
2. Posgrado en Ciencias Biomédicas, Facultad de Ciencias Químico Biolo´gicas, Universidad Autónoma de Sinaloa, Av. de las Américas y Universitarios s/n Ciudad Universitaria, 80010 Culiacán, Sinaloa, México
3. Laboratorio de Biomedicina y Biología Molecular, Ingeniería en Biotecnología, Universidad Polite´cnica de Sinaloa, Carretera municipal libre Mazatlán Higueras Km 3 col. Genaro Estrada, 82199 Mazatlán, Sinaloa, México
4. Laboratorio de Genética y Biología Molecular, Maestría en Ciencias Biomédicas, Facultad de Ciencias Químico Biológicas, Universidad Autónoma de Sinaloa, Av. de las Américas y Universitarios s/n Ciudad Universitaria, 80010 Culiacán, Sinaloa, México

Published

16 July 2020

Manuscript received

12 August 2019

Manuscript revised

20 February 2020

Accepted

29 April 2020