Genetic factors are implicated in pathogenesis of neonatal hyperbilirubinemia. In this nested case-control study, we determined 1) frequency of thymine-adenine (TA) n promoter polymorphism and Gly71Arg mutation in uridine diphosphoglucuronateglucuronosyltransferase 1A1 (UGT1A1) gene in neonates Ն35-wk gestation presenting with bilirubin levels Ն18 mg/dL and controls, 2) interaction among (TA) n promoter polymorphism, glucose-6-phosphate dehydrogenase (G6PD) gene mutations, and peak bilirubin. The number of TA repeats was assessed by PCR-single-strand conformation polymorphism (SSCP) analysis and Gly71Arg mutation by PCR-RFLP. Fifty samples of both mutations were verified with DNA sequencing. One hundred twenty-seven neonates were enrolled (77 hyperbilirubinemics, 50 controls). The incidence of (TA) n polymorphism was higher in babies with hyperbilirubinemia [89.6% vs. 50%, OR 8.63 (95% CI, 3.2-24.1)]. Gly71Arg mutation was not found either in hyperbilirubinemics or controls. A novel polymorphism (Ala72Pro) at codon position 72 of exon 1 was detected in all 50 samples (21 hyperbilirubinemics, 29 controls), which were sequenced. Presence of variant (TA) n promoter (adjusted OR, 10.6; 95% CI, 3.3-34.2), G6PD deficiency (adjusted OR, 20.6; 95% CI, 3.6 -117.3), and history of jaundice in sibling requiring phototherapy (adjusted OR, 12.6; 95% CI, 1.1-141.6) were independent risk factors for bilirubin levels Ն18 mg/dL. (Pediatr Res 65: 675-680, 2009) T he incidence and severity of neonatal hyperbilirubinemia is significantly higher in Asians, more so in North Indians, than in Caucasians (1,2). Despite all standard investigations, no cause is identified in 48 -58% of these cases (2,3). Genetic factors have been implicated in such situations; however, their contribution in Indian population has not been reported. Genetic variants involving red blood cell enzyme glucose-6-phosphate dehydrogenase (EC 1.1.1.49; G6PD) and bilirubin conjugating enzyme uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (EC 2.4.1.17; UGT1A1) have been commonly associated with neonatal hyperbilirubinemia (4,5). The usual polymorphism described in Caucasians is additional thymine-adenine (TA) insertions in the normal sequence A(TA) 6 TAA of the TATAA box promoter of the UGT1A1 gene (6). However, in East Asians, missence mutations in the coding area of the UGT1A1 gene, especially G3 A transition at nucleotide position 211 of exon 1 (Gly71Arg) are the most common (7). The types, prevalence, and importance of various mutations of UGT1A1 gene vary across different regions of world.Hence, this study was conducted with the primary objective of determining the frequency of (TA) n promoter polymorphism and Gly71Arg mutation in the UGT1A1 gene in North Indian neonates Ն35-wk gestation presenting with serum total bilirubin (STB) Ն18 mg/dL. The secondary objective was to study the interaction among the presence of UGT1A1 gene polymorphisms, G6PD gene mutations, and peak STB levels. PATIENTS AND METHODSThis was a hospital-based nested case-co...

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Introduction: Orofacial clefts are a heterogeneous group of disorders arising in about 1.7/1000 newborns. They can occur with other congenital anomalies, including heart disease. Aim: To describe a population with orofacial clefts and associated cardiac anomalies.