- PMID
- Gene Name
- Molecular Event
- Function in UC
- 20022574
- G6PD
- polymorphism
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Exploring the genetic architecture of neonatal hyperbilirubinemia. neonatal medicine, 2010 Jun [Go to PubMed]
- The potential for genetic variation to modulate neonatal hyperbilirubinemia risk is increasingly being recognized. In particular, polymorphisms across three genes involved in bilirubin production and metabolism [glucose-6-phosphate dehydrogenase (G6PD), uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1), and solute carrier organic anion transporter polypeptide 1B1 (SLCO1B1)] may interact with each other and/or environmental contributors to produce significant hyperbilirubinemia. Variant gene co-expression including compound and synergistic heterozygosity enhances hyperbilirubinemia risk, contributing to the etiologic heterogeneity and complex nature of neonatal jaundice.
- 18226470
- G6PD
- polymorphism
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE The first is IVS V 17 (-C) found in two subjects and the second is IVS VIII 43 (-G) encountered in four subjects.
- Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia. Pathologie-biologie, 2008 Jul [Go to PubMed]
- Screening of G6PD deficiency was carried out on 79 unrelated subjects (32 females and 47 males), all coming from out consultation. DNA from deficient subject (11 females and 30 males) was analyzed for the presence of G6PD mutation. Known mutations were studied by the appropriate restriction enzyme digestion of fragment amplified by PCR. Where the mutation could not be identified in this way, the samples were subjected to SSCP analysis and abnormal fragments were sequenced. Through these methods, seven different mutations have been identified. Among deficient females, eight had the African variant A-(tow of them were homozygous) and three had the Mediterranean variant, one of them was homozygous and have had a haemolytic crisis after ingestion of fava beans showing at birth manifestation of neonatal jaundice. Among deficient males, four were hospitalized and transfused after a haemolytic crisis due to ingestion of fava beans. All of them have had manifestation of neonatal jaundice. Of them, one carried the Meiterranean variant and three others had the African variant A-. Among the remaining deficient males, 15 had A-variant, two had the Aurès mutation. SSCP analysis of nine mild deficient males, revealed the presence of the association of 1311 CT/93 TC in two subjects, a newly described silent mutation in the exon 12 associated with the polymorphism in the intron 11 93 TC in one subject and tow single intronic base deletion. The first is IVS V 17 (-C) found in two subjects and the second is IVS VIII 43 (-G) encountered in four subjects.
- 7919613
- G6PD
- polymorphism
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- this review we will examine the progress made since that time in our understanding of the pathophysiology of severe NJ associated with G6PD def, its global epidemiology, and its role in the balanced Polymorphism of the G6PD def gene (Gd)
- Severe neonatal jaundice associated with glucose-6-phosphate dehydrogenase deficiency: pathogenesis and global epidemiology. Acta paediatrica (Oslo, Norway : 1992). Supplement, 1994 Mar [Go to PubMed]
- The association of glucose-6-phosphate dehydrogenase deficiency (G6PD def) with severe neonatal jaundice (NJ) and Kernicterus was described just over 30 years ago in reports from Sardinia (1-4) Singapore (5,6) and Greece (7,8). In this review we will examine the progress made since that time in our understanding of the pathophysiology of severe NJ associated with G6PD def, its global epidemiology, and its role in the balanced polymorphism of the G6PD def gene (Gd). Including this review in the Festschrift to Spyros Doxiadis should highlight his contribution to the field. In Greece the search for a new cause of severe NJ and Kernicterus was triggered by his realization that the recognized at the time, causes of severe NJ were absent in a large proportion of the neonates treated at the"
Alexandr"
Maternity Hospital in Athens (9). - 24783083
- G6PD
- polymorphism
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- We showed that in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates, there was no significant association between Gilbert's syndrome (promoter Polymorphism) and hyperbilirubinemia.
- Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects. Journal of clinical and diagnostic research : JCDR, 2014 Mar [Go to PubMed]
- The pathogenesis of neonatal hyperbilirubinemia hasn't been completely defined in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient newborns. The aim of this study was to detect the relationship between Gilbert's syndrome and hyperbilirubinemia in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates.
This case-control study was conducted in Amirkola pediatrics teaching hospital, Babol, Iran. A total number of one hundred four infants were included in the study (51 infants with neonatal jaundice and Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted to phototherapy or transfusion were selected as the case group and 53 infants with Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted for other reasons than jaundice were selected as the control group). Exclusion criteria were ABO or Rh incompatibility or other reasons that made Coombs test positive, sepsis, hepatosplenomegaly, metabolic diseases, medical treatment and phototherapy. The promoter and coding regions of Uridine diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) of genomic DNA were amplified by polymerase chain reaction (PCR) isolated from leukocytes. We used chi-square test and t-test to compare cases and controls.
Distribution of Gilbert genome was not significantly different between the two groups; among cases, 33.3% were homozygote, 35.3% heterozygote, and 31.4% normal. Among controls, 22.6% were homozygote, 34% heterozygote, and 43.4% normal (p-value=xxx). Hyperbilirubinemia family history didn't differ significantly between these two groups.
We showed that in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates, there was no significant association between Gilbert's syndrome (promoter polymorphism) and hyperbilirubinemia.
4 pubmed articles have reported G6PD polymorphism associated with Neonatal Jaundice.