Distribution of Some Point Mutations in the Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from the Moscow Region

Charikova, E. V.; Хальчицкий, С Е; Antoshechkin, A.G.; Schwartz, E.I.

doi:10.1159/000154138

Cited by 9 publications

(5 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is consistent with the fact that most part of Latvian PKU patients have the classical form of the disease. These results show a high degree of homogeneity in the molecular basis of PKU in Latvia in agreement with what found in other populations from Eastern and Central Europe (Charikova et al, 1993;Jaruzelska et al, 1993;Lillevali et al, 1996;Giannattasio et al, 1997;Kozak et al, 1997).…”

Section: Resultssupporting

confidence: 91%

The molecular basis of phenylketonuria in Latvia

et al. 2003

View full text Add to dashboard Cite

Characterization of the molecular basis of phenylketonuria (PKU) in Latvia has been accomplished through the analysis of 96 unrelated chromosomes from 50 Latvian PKU patients. Phenylalanine hydroxylase (PAH) gene mutations have been analyzed through a combined approach in which R158Q, R252W, R261Q, G272X, IVS10-11G>A and R408W mutations were first screened for by PCR or restriction generating PCR amplification of PAH gene exons 5, 7, 11 and 12 followed by digestion with the appropriate diagnostic enzyme. Subsequently 'broad range' denaturing gradient gel electrophoresis analysis of the 13 PAH gene exons has been used to study uncharacterized PKU chromosomes. A mutation detection rate of 98% was achieved. 12 different mutations were found, with the most frequent mutation, R408W, accounting for 76% of Latvian PKU alleles. Six mutations (R408W, E280K, R158Q, A104D, R261Q and P281L) represent 92% of PKU chromosomes. PAH VNTR and STR alleles have been also identified and minihaplotype associations with PKU mutations were also determined.

show abstract

Section: Resultssupporting

confidence: 91%

The molecular basis of phenylketonuria in Latvia

et al. 2003

View full text Add to dashboard Cite

show abstract

“…The frequency of the R408W mutation among 31 unrelated PKU patients from the Moscow region (Charikova et al 1993) was comparable to that found in the present investigation. They found that the R158Q and R261Q mutations were at low frequencies; however, the IVS12nt-1 mutation was more prevalent.…”

Section: Discussionsupporting

confidence: 89%

“…To date, more than 300 PKU mutations have been reported in the world (Nowacki et al 1998). Although the molecular lesions present in the PAH genes have previously been determined among Russian populations in Moscow and Saint Petersburg (Charikova et al 1993, Baranovskaya et al 1996, little is known regarding the molecular basis of PKU in the Far East of Russia. The ethnic background in the region is predominantly Slavic (90% of the population), that originated in European Russia or in Eastern European countries.…”

Section: Introductionmentioning

confidence: 99%

Mutation screening of phenylketonuria in the Far East of Russia

et al. 1999

View full text Add to dashboard Cite

We analyzed mutant genotypes at the human phenylalanine hydroxylase (PAH) locus among phenylketonuria (PKU) patients in the Far East of Russia. A total of 60 variant alleles from 30 PKU families were analyzed for prevalent Caucasian mutations and restriction fragment length polymorphism/variable number of tandem repeats (RFLP/VNTR) haplotypes. Seventy-eight percent of all variant alleles carried six mutations. The most prevalent mutation was R408W (63%), with a haplotype background of 2.3. It also showed a very high degree of homozygosity (43%). The other five mutations (R158Q, R261Q, R252W, R261X, and IVS12nt-1) accounted for 1.7%-6.7% of all PKU alleles, and a single haplotype was associated with each genotype, except for R261Q. The genetic structure of PKU patients in the Far East of Russia seems to be relatively homogeneous, compared with that in the other Slavic and Oriental populations of surrounding countries. Prediction of a clinical phenotype and carrier detection will be feasible using DNA tests.

show abstract

“…Relative R408W-H2 frequencies of up to 84% were found in the Baltic states [Lillevali et al, 1996;Kasnauskiene et al, 2003;Pronina et al, 2003]. There are incomplete data sets for the European part of Russia and other states of the former Soviet Union [Charikova et al, 1993;Baranovskaya et al, 1996]; recent data from the Ukraine have been published in abstract format [Nechyporenko and Livshits, 2002]. Apart from a high frequency of R408W-H2, PKU is quite heterogeneous in the Czech Republic [Kozak et al, 1997].…”

Section: Eastern Europementioning

confidence: 99%

Phenylketonuria mutations in Europe

2003

View full text Add to dashboard Cite

For the PKU Special IssuePhenylketonuria (PKU) is heterogeneous. More than 400 different mutations in the phenylalanine hydroxylase (PAH) gene have been identified. In a systematic review of the molecular genetics of PKU in Europe we identified 29 mutations that may be regarded as prevalent in European populations.Comprehensive regional data for these mutations were collated from all available studies. The spectrum of mutations found in individual regions results from a combination of factors including founder effect, range expansion and migration, genetic drift, and probably heterozygote advantage.

show abstract

Distribution of Some Point Mutations in the Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from the Moscow Region

Cited by 9 publications

References 7 publications

The molecular basis of phenylketonuria in Latvia

The molecular basis of phenylketonuria in Latvia

Mutation screening of phenylketonuria in the Far East of Russia

Phenylketonuria mutations in Europe

Contact Info

Product

Resources

About