Newborn mass screening in Japan-1984

Wada, Yoshiro; Nakajima, Hideto; Irie, Minoru; Hirayama, Motoaki; Suwa, Seizo

doi:10.1007/bf01871245

Cited by 8 publications

(4 citation statements)

References 12 publications

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“…Since there were no PKU patients in our sample, the obtained result cannot be ascribed to mutations responsible for PKU. Further, considering the carrier frequency for PKU of about 1/150 that corresponds to the PKU incidence among Japanese of 1/70000 to 1/ 120000 [21,22], the number of individuals heterozygous for a rare mutation responsible for PKU is estimated to be less than 5 in our sample. Therefore, it is unlikely that the obtained results are attributable largely to such rare mutations.…”

Section: Discussionmentioning

confidence: 99%

Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults

et al. 2013

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BackgroundPhenylalanine hydroxylase (PAH) is the enzyme that metabolizes phenylalanine, an essential amino acid required for catecholamine synthesis. Rare mutations in PAH are causal to phenylketonuria (PKU), an autosomal recessive disease characterized by neuropsychiatric symptoms including intellectual disability. We examined whether there is an association between common single nucleotide polymorphisms (SNPs) of PAH and memory performance in the Japanese population.MethodsSubjects were 599 healthy adults (166 males and 433 females; mean age 43.8 ± 15.5 years). The Wechsler Memory Scale-Revised (WMS-R) was administered to all participants to assess memory performance. Genotyping was performed for 6 selected tagging SNPs of PAH (rs1722387, rs3817446, rs1718301, rs2037639, rs10860936 and rs11111419).ResultsAnalyses of covariance controlling for sex and education years, indicated a significant association between a SNP (rs2037639) and age-corrected verbal memory index of WMS-R (nominal p = 0.0013) which remained significant after correction for multiple testing ( p = 0.0013 < 0.0017 = 0.05/30tests). Individuals with the GG genotype showed a significantly lower mean verbal memory score, compared with those individuals carrying the AA/AG genotype (106.0 ± 16.0 vs. 111.7 ± 13.4; p = 0.00099). A haplotype block containing two markers of rs2037639 and rs10860936 was associated with verbal memory index (permutation global p = 0.0091).ConclusionsOur findings suggest that common genetic variations in PAH are associated with verbal memory in healthy adults. Unknown functional polymorphisms in PAH or those in other genes nearby might affect memory performance.

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Section: Discussionmentioning

confidence: 99%

Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults

et al. 2013

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“…Despite the expected decrease in the incidence, Wilson's disease is still quite frequent as compared to other monogenic diseases currently under mass screening in Japan (Wada et al, 1984). The disease is preventable and mass screening should be considered (Saito, 1981).…”

Section: Discussionmentioning

confidence: 99%

An expected decrease in incidence of Wilson's disease due to decrease in consanguinity

Saito

1985

Jap J Human Genet

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SummaryAn expected decrease in incidence of Wilson's disease due to recent decrease in consanguinity rate in the population was assessed based on 162 affected families collected in Japan. The estimated gene frequency was 0.0055 and the corresponding incidence of the disease in the period from 1945 to 1965 was around 1 in 20,000. This incidence is expected to have decreased to 1 in 30,000 in the early 1980s due to decreased consanguinity rate which is supposedly less than 1% in Japan. The proportion of patients from consanguineous marriage among all the patients is also expected to have decreased from around 40% to a little less than 10% during the same period.

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“…The incidence of MSUD ranges from 1 in 225 000 to 1 in 400 000 births in the USA, Japan and Europe, based on the results of screening of newborn infants (Marshall and DiGeorge 1981;Wada et al 1984;Bickel 1987). In the Mennonite kindred of Pennsylvania, a highly inbred ethnic group of German descent, the incidence of classical MSUD appears to be as high as 1 in t76 births (Marshall and DiGeorge 1981).…”

Section: *Correspondencementioning

confidence: 97%

Gene analysis of mennonite maple syrup urine disease kindred using primer‐specified restriction map modification

Mitsubuchi

Matsuda

Nobukuni

et al. 1991

J of Inher Metab Disea

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Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1 alpha, E1 beta or E2, of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). A large Mennonite kindred of MSUD has been studied in Pennsylvania, USA. In the present investigation, genomes from 70 members, including 12 patients belonging to eight different Mennonite MSUD pedigrees, were examined for possible abnormalities in the E1 alpha gene of BCKDH, by primer-specified restriction map modification. A T-to-A substitution which generates an asparagine in place of a tyrosine at amino acid 394 of the mature E1 alpha subunit was present in both alleles in all the patients and in a single allele in all obligate carriers and several siblings. We describe a new technique for rapid and easy detection of the mutant gene in this population. These family studies provide additional evidence that Mennonite MSUD is caused by a missense mutation of the E1 alpha gene of BCKDH

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Newborn mass screening in Japan-1984

Cited by 8 publications

References 12 publications

Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults

Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults

An expected decrease in incidence of Wilson's disease due to decrease in consanguinity

Gene analysis of mennonite maple syrup urine disease kindred using primer‐specified restriction map modification

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