PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “GLUCOSEPHOSPHATE DEHYDROGENASE”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 109 records · Page 6Linked to original sources
PubMed1978

G-6PD loading of G-6PD-deficient erythrocytes.

G-6PD-deficient erythrocytes were loaded during hypotonic hemolysis with G-6PD extracted from yeast. It was shown that enzyme was really trapped into red blood cells and remained functionally active.

Erythrocytes↗
PubMedDate not supplied

Molecular basis of G6PD deficiency in India.

G6PD deficiency has been reported from India more than 30 years ago and about 13 variants have been characterized biochemically. Here, we report the results of an epidemiological study investigating G6PD deficiency and the mutations among 14 heterogenous populations of India. Of the 3166 males tested, 332 (10.5%) were found to be G6PD-deficient and the prevalence rate varied from 5.7% to 27.9% in the different population groups. Molecular characterization revealed that G6PD Mediterranean (563 C-->T) was the commonest (60.4%) deficient variant followed by G6PD Kerala-Kalyan (949 G-->A; 24.5%) and G6PD Orissa (131 C-->G; 13.3%). G6PD Mediterranean had a more widespread distribution as compared to G6PD Kerala-Kalyan and G6PD Orissa and was associated with both 1311 C and 1311 T polymorhism. G6PD Mediterranean was found to have significantly lower red cell enzyme activity and more severe clinical manifestations than the other two. G6PD Chatham (1003 G-->A) with undetected red cell enzyme activity and G6PD Insuli (989 G-->A) with normal G6PD activity were very rare in the Indian population. The absence of a large number of mutations causing G6PD deficiency points to the fact that the genetic diversity of these populations is considerably lowered than expected.

Ethnicity↗
PubMedDate not supplied

Two distinct Indian G6PD variants G6PD Jamnagar and G6PD Rohini caused by the same 949 G-->A mutation.

Earlier we have reported two G6PD variants viz.; G6PD Jamnagar and G6PD Rohini. The enzymes from both the variants showed altered biochemical properties with mild enzyme deficiency and were classified as unique Class III variants. G6PD Jamnagar was found to be associated with drug-induced hemolytic anemia whereas G6PD Rohini was picked up during a population survey. Subsequent molecular studies on the DNA from both the cases showed the presence of the Kerala-Kalyan (949 G-->A) mutation. Hence, this study besides supporting the fact that biochemically distinct variants could have the same mutation at the molecular level also highlights the importance of molecular characterization of G6PD variants.

Adolescent↗
PubMed2007

G6PD (AC)n and (CTT)n microsatellites in Mexican Mestizos with common G6PD African variants.

Genotyping for the G6PD (AC)n and (CTT)n microsatellites in a sample of 58 Mexican Mestizos with common G6PD African variants was carried out. The second mutation that defines to the variants G6PD A(-202A/376G), G6PD Santamaria(376G/542T) and G6PD A(-376G/968C) very probably occurred on G6PD A(376G) chromosomes with the compound haplotypes, intragenic silent polymorphisms and microsatellites, Pvu-II/Pst-I/Bcl-I/Nla-III/(AC)n/(CTT)n: +/+/-/+/166 bp/195 bp, -/+/-/+/166 bp/201 bp, and -/+/-/+/166 bp/204 bp respectively. The structure of the repeat sequences for the AC-166 bp allele in the 3 variants was (TA)5(AA)1(TA)9(CA)10 whereas the repeat sequences for the CTT-195 bp, CTT-201 bp and CTT-204 bp alleles were (CTT)11(ATT)6, (CTT)7(ATT)12 and (CTT)7(ATT)13 in the first, second and third variants respectively. Genotyping for the G6PD microsatellites can be a useful tool with several applications.

Alleles↗
PubMed2005

Reliability of quantitative and qualitative tests to identify heterozygotes carrying severe or mild G6PD deficiency.

OBJECTIVES: To determine if the qualitative test (cytochemical) is more reliable than the quantitative test (differential pH-metry) in identifying heterozygous G6PD- subjects. DESIGN AND METHODS: Identification of heterozygous G6PD- subjects was done by the measurement of G6PD activity and by a cytochemical test. RESULTS: A cytochemical test is more sensitive than differential pH-metry to identify heterozygous G6PD- subjects. CONCLUSIONS: A cytochemical test is a reliable method for mass screening for G6PD deficiency to identify G6PD- heterozygotes.

Adult↗
PubMed1991

Two commonly occurring nucleotide base substitutions in Chinese G6PD variants.

Using a direct PCR sequencing technique, we have identified two DNA base substitutions in 8 different biochemical G6PD variants of Chinese origin. Neither one of these abnormalities has been reported in other ethnic groups. An abnormality (C1) of G to T substitution at cDNA 1376 causing an amino acid change from Arg to Leu has been found in 3 variants. Another abnormality (C2) of G to A substitution at cDNA 1388 causing an amino acid change from Arg to His has been found in 5 variants. Both C1 and C2 are located in exon 12 of the G6PD gene and are only 12 base pairs apart. However, C1 is associated with a significant increase in the deamino-NADP utilization rate, whereas C2 is not. Taken together, our data suggest that C1 and C2 are very common among Chinese with a G6PD deficiency and exon 12 may define an important functional domain of the human G6PD.

Base Sequence↗