Zamorano-Jiménez Clara Aurora, Baptista-González Héctor Alfredo, Bouchán-Valencia Patricia, Granados-Cepeda Martha Lucía, Trueba-Gómez Rocío, Coeto-Barona Georgina, Rosenfeld-Mann Fany, Rosa-Mireles Luisa Blanca, Meléndez-Ramírez Rocío
Universidad Nacional Autónoma de México, Maestria en Ciencias Medicas, UNAM, México, D.F.
Hematología Perinatal, Instituto Nacional de Perinatología, México, D.F.
Gac Med Mex. 2015 Jan-Feb;151(1):34-41.
To present the strategy of identifying the molecular variants of G6PD detected in neonatal screening (NS).
We present a series of incident cases of newborns positive for G6PD deficiency detected in NS. From nuclear DNA with the methodology of real-time PCR we sought molecular G6PD variants: G202A, A376G, T968C and C563T.
Of a total of 21,619 neonates, 41 cases were reactive in NS for G6PD (189.6/100,000 RN screened rate), 34 cases confirmed the molecular variant of G6PD (157.3/100,000 RN screened rate). The most frequent allele combination G202A/A376G (G6PD ratio and median activity, 0.460 and 1.72 ± 0.35 U/g Hb, respectively), followed by G202A (0.170 and 1.74 ± 0.27 U/g Hb) and A376G/T968C (ratio 0.150 and 1.10 ± 0.44 U/g Hb). The T968C allelic variant showed lower enzyme activity than the rest (1.1 ± 0.4; p = 0.02). Two women were detected with G6PD deficiency with G202A/A376G and G202A variant.
African alleles were prevalently detected in neonatal screening. This strategy allows the identification of molecular variants involved in 80% of cases.
介绍在新生儿筛查（NS）中鉴定检测到的葡萄糖-6-磷酸脱氢酶（G6PD）分子变体的策略。
我们展示了一系列在NS中检测出G6PD缺乏呈阳性的新生儿病例。采用实时聚合酶链反应（PCR）方法从核DNA中寻找G6PD分子变体：G202A、A376G、T968C和C563T。
在总共21619名新生儿中，41例在NS中G6PD检测呈阳性（筛查率为189.6/100000），34例确诊为G6PD分子变体（筛查率为157.3/100000）。最常见的等位基因组合是G202A/A376G（G6PD比率和中位活性分别为0.460和1.72±0.35U/g血红蛋白），其次是G202A（0.170和1.74±0.27U/g血红蛋白）和A376G/T968C（比率0.150和1.10±0.44U/g血红蛋白）。T968C等位基因变体的酶活性低于其他变体（1.1±0.4；p=0.02）。检测到两名女性患有G202A/A376G和G202A变体的G6PD缺乏症。
在新生儿筛查中普遍检测到非洲等位基因。该策略能够鉴定出80%病例中涉及的分子变体。
