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At least 217 records · Page 12Linked to original sources
PubMed1997

[Identification of G6PD gene mutations in several nationalities from Yunnan province].

OBJECTIVE: To analyze the G6PD gene mutations in several nationalities from Yunnan province. METHODS: G6PD gene mutation of 29 samples from G6PD deficient patients were analyzed by using common and mis-matched primering PCR followed by restriction enzyme digestion. The samples were collected from Yunnan province among several nationalities. RESULTS: In these 29 cases, 20 were of two known mutations, including 19 of 1388 (G-->A) and 1 of 1376 (G-->T) mutation. The 7 cases of national minorities, including 3 of Yi ([symbol: see text]), 2 of Bai ([symbol: see text]), 1 of Dai ([symbol: see text]), and 1 of Naxi ([symbol: see text]), were all 1388 mutations. No report of the G6PD gene 1388 mutation in these ethnic groups was published excepting for Dai. CONCLUSION: The mutation probably had been prevalent before the emergence of these national minorities. The approximate rate of G6PD gene mutations provided in Yunnan province may, in some respects, help to interpret the molecular evolution.

Asian People↗
PubMed2004

[Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].

OBJECTIVE: To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency. METHODS: Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11. RESULTS: Abnormal band in exon 11 was found in 12 cases. DNA sequencing showed that they were 1311 mutation together with 93 mutation. CONCLUSION: This complex mutation may be the cause of reduced activity of G6PD enzyme.

Base Sequence↗
PubMed2005

Denaturing high-performance liquid chromatography technique platform applied to screen G6PD deficient variants.

OBJECTIVE: Of denaturing high performance liquid chromatography (DHPLC), a technique platform was developed for screening G6PD deficient variants. METHODS: When applied to screen and identify the G6PD deficient variants from 124 patients who come from 11 nations in China, the DHPLC was compared with amplification refractory mutation system (ARMS) or DNA sequence technique and assessed carefully in its accuracy, sensitivity, efficiency and the cost of experiment. RESULTS: The G6PD-deficient variants, such as 1388 G-->A (36/124 cases), 1376 G-->T(35), 95 A-->G (14), 1024 C-->T (3), 392 G-->T (4), 871 G-->A /1311 C-->T /IVS XI +93 t-->c (9), 871 G-->A (1), 1311 C-->T/IVS XI +93 t-->c (4), 1376 G-->T /1388 G-->A (1) and so on, were characterized as sharp peaks by DHPLC and verified by DNA sequence. Further, the standard chromatograms were put into database for 8 kinds of common G6PD deficient variants in Chinese populations. And also DHPLC found 3 G6PD variants (1388 G-->A) from 103 negative controls. With taking 8.8 minutes and costing 1 dollar for each sample, DHPLC successfully detected and identified 34 heterozygous females from patients with G6PD deficiency. However, ARMS checked 83 positive controls but got 12 false G6PD mutants, of which 5 were false positive, 7 false negative. Above results show that DHPLC sounds like to be more convenience, sensitive and accurate than ARMS and DNA sequence techniques for checking G6PD mutants. CONCLUSION: DHPLC is of great advantage to screen the G6PD deficient variants with accuracy, convenience, automation and less cost, and significantly to identify the female heterozygote and clinical type IV individuals with G6PD deficiency.

Chromatography, High Pressure Liquid↗
PubMed2005

Screening for haemoglobinopathies and G6PD deficiency among the Mizos of Mizoram: a preliminary study.

The population of North-eastern region of India is of different tribes, races and ethnic backgrounds. The study of abnormal haemoglobins and G6PD has been usefully utilized in population genetics to evaluate the nature and extent of selective forces operating in a population. Data on haemoglobinopathies and G6PD deficiency is still not available from the State of Mizoram. The present study was aimed to document the frequency of these genetic traits in the Mizos of Mizoram. Blood samples in the form of dried filter paper spots collected from 490 Mizos were subjected to haemoglobin electrophoresis in starch agar gel for detection of haemoglobin variants and fluorescent spot test was conducted for screening of G6PD deficiency. Hb E was the only haemoglobin variant detected. The prevalence of the carreer state was documented to be 1.5%. G6PD deficiency was prevalent in 17.5% of this population. The prevalence of Hb E was much lower and that of G-6PD deficiency was found to be much higher than what has been reported from most other states of the north-eastern region of India. This might point towards a different ethnic origin of this population.

Adolescent↗
PubMed1990

The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.

A polymorphic site exists in exon 11 of G6PD: in the wild-type enzyme, nucleotide (NT) 1311 is a C, but is some individuals from diverse populations a T is present instead. Nine of 54 X chromosomes from Europeans of mixed origins, nine of 41 X chromosomes of Ashkenazi Jewish subjects, three of 18 X chromosomes of Sicilians, five of 20 African X chromosomes, and nine of 20 Asian Indian X chromosomes had the mutant genotype. In contrast, the mutation was found in only three of 59 Oriental X chromosomes and in three of 30 Central/South American X chromosomes. The mutation was absent from four samples of chimpanzee DNA. Twenty-one of 22 male subjects from Mediterranean countries who had the G6PD Mediterranean 563T genotype investigated in the present study or reported previously had a T at NT 1311. Only one had the normal C at NT 1311. In contrast, both G6PD Mediterranean563T males from the Indian subcontinent had the normal C at NT 1311. These findings suggest that the same mutation at nucleotide 563 giving rise to G6PD Mediterranean may have arisen independently in Europe and in Asia.

Animals↗
PubMedDate not supplied

[Favism in Polish families].

Four cases of fawism are presented. The disease was seen in one male patient, one homozygote and in 3 carriers of G6PD deficit. Diagnostic procedures, course of the haemolytic crisis in these patients, and possibility of prophylaxis in the families with fawism are discussed.

Adult↗
PubMed1990

Prognosis of hemolytic anemia in G6PD- subjects. Multifactorial cluster analysis of biochemical characteristics of red cell age groups.

Individual susceptibility of 10 G6PD- hemizygotes to oxidative hemolytic agents was tested on the basis of multifactorial cluster analysis of biochemical indices of erythrocyte populations; the indices related to G6PD activity and glucose metabolism were analyzed under physiological and oxidative stress conditions in very young, exactly adult and very old red cell suspensions. Biochemical images of G6PD- erythrocytes were obtained and compared with the donor (7 subjects) biochemical image on a IBM-PC computer according to a special "taxon" program. As a result, a stable subdivision of 10 Gd- biochemical images into 5 taxons was formed; each taxon included G6PD subjects with a certain form of clinical appearance of G6PD deficiency. Multifactorial cluster analysis of biochemical data on the erythrocyte population allows a clinical prognosis for G6PD- subjects.

Anemia, Hemolytic↗
PubMed1990

Cord blood red-cell enzymes and reduced glutathione in Indian neonates, normal and with pathologic jaundice.

Red-cell enzymes and reduced glutathione (GSH) were assayed on cord blood in 307 Indian neonates. On follow-up, 20 of them developed pathologic jaundice. Of these, six had red-cell enzyme/GSH deficiency, seven had associated non-enzymatic causes of jaundice, and in the remaining seven the cause could not be diagnosed. In 41 other neonates, there was enzyme/GSH deficiency without pathologic jaundice. The degree of enzyme deficiency had no relation with jaundice. Red-cell enzyme/GSH deficiency state in neonates was associated with pathologic jaundice more frequently (six of 47; 12.8%) than in the absence of such deficiency (14 of 260; 5.4%). None of the jaundiced patients had very high levels of bilirubin nor needed exchange blood transfusion. There was no reduction in haemoglobin level in the enzyme/GSH deficient group with jaundice in comparison with non-deficient jaundiced neonates or normal subjects. The incidence of red-cell enzyme/GSH deficiency appears to be high in Indian neonates; however, the majority of them do not precipitate pathologic jaundice.

Analysis of Variance↗
PubMed1985

[Patterns of Gd- allele distribution in ethnic groups of the Soviet Union].

The rate and the spectrum of Gd- alleles have been determined in representative groups of schoolchildren and students from three populations (Russians, Ashkenazi Jews and Azerbaijhanians). The Gd- frequency is 0,36% in Russians (Kostroma region). 0.91% in Ashkenazi (Gomel region), these being 10.5% in Azerbaijhanians (Sheki region) and 3.6% for Kobi settlement of Apsheron region. G6PD-deficiency in Russians is represented by family forms, while in Ashkenazi it is II class alleles Kirovograd and Zhitomir and in Azerbaijhanians--a wide spectrum of II and III class alleles. Genetic factors involved in Gd- spectrum formation in these three populations are discussed.

Adolescent↗
PubMed1986

Distribution of red cell G6PD and 6PGD phenotypes in Saudi Arabia.

A total of 1112 randomly selected Saudi Arabs, of both sexes living in Jeddah and the surrounding areas, were studied for the distribution of red cell G6PD and 6PGD phenotypes by the methaemoglobin reduction test and starch-gel electrophoresis. The overall G6PD deficiency was 8.4% in males and 7.0% in females. No deficiency of 6PGD was detected. The gene frequencies at the G6PD locus were as follows: in males [GdB+ - 0.86; GdA+ - 0.05; GdB- - 0.06, GdA- - 0.02] and those in females [GdB+ - 0.85; GdA+ - 0.07; GdB- - 0.06; GdA- - 0.01] respectively. The hyperactive allele, GdBKRT originally detected in the Sudan was also present in a low frequency in Saudi Arabs. The frequency of PGDA and PGDC alleles were found to be 0.94 and 0.06 respectively. There was a significant deviation from the Hardey-Weinberg Equilibrium in the distribution of PGDC alleles with an excess of homozygotes (chi 2(1): 54.0) and lack of heterozygotes (chi 2(1): 7.31) probably due to the practice of inbreeding for many generations.

Alleles↗
PubMed1985

G-6-PD and haemoglobin variants among twelve endogamous Dhangar castes of Maharashtra, India.

Incidence of haemoglobin variants and G-6-PD deficiency among 1385 males belonging to 12 endogamous Dhangar castes of Maharashtra, India, have been reported. Of the 12 castes studied 11 lacked the allele for G-6-PD deficiency; 2.7% of the Thellaris were found to be deficient. Haemoglobin Hb-D trait is found in 2 of the 12 castes; the incidence among Ahirs and Hatkars being 0.82% and 1.91%, respectively. One case of Hb-J among the Ahirs, and 2 examples of thalassaemia trait, one each among Ahirs and Gadharis, have been detected. The low incidence of observed G-6-PD deficiency and the detection of Hb-D and J traits, as well as thalassaemia have been discussed in the light of the nomadic way of life of some of the Dhangar castes and prevalence of malaria in the region they occupy. The data strongly suggest that the Dhangars arrived in Maharashtra in the recent past from northwest.

Consanguinity↗