Literature DB >> 15719047

[Screening for the G1528C mutation in long chain fatty acid oxidation enzyme in Han nationality in Beijing population].

Jin-ming Zhu1, Zi Yang, Mei Yu, Rong Wang, Rong-hua Ye, Hui-xia Yang, Gui-rong Zhai, Qi Wang.   

Abstract

OBJECTIVE: To explore the carrier rate of G1528C mutation in alpha-subunit gene of MTP in Chinese newborns.
METHODS: 1 200 cases of cord blood samples were taken in pregnant women with Han nationality in Chinese. PCR-RFLP analysis was conducted for detection of G1528C mutation.
RESULTS: No. G1528C mutations in LCHAD gene were found in these study subjects.
CONCLUSION: G1528C is probably not the common prevalent mutation in MTP gene in Chinese. Different prevalent mutation between Chinese and Western white people needs further study.

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Year:  2005        PMID: 15719047

Source DB:  PubMed          Journal:  Beijing Da Xue Xue Bao Yi Xue Ban        ISSN: 1671-167X


  4 in total

1.  Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

Authors:  K Joost; K Ounap; R Zordania; M-L Uudelepp; R K Olsen; K Kall; K Kilk; U Soomets; T Kahre
Journal:  JIMD Rep       Date:  2011-09-06

Review 2.  Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Authors:  Autumn L Fletcher; Mark E Pennesi; Cary O Harding; Richard G Weleber; Melanie B Gillingham
Journal:  Mol Genet Metab       Date:  2012-03-08       Impact factor: 4.797

3.  High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.

Authors:  Bogusław Nedoszytko; Alicja Siemińska; Dominik Strapagiel; Sławomir Dąbrowski; Marcin Słomka; Marta Sobalska-Kwapis; Błażej Marciniak; Jolanta Wierzba; Jarosław Skokowski; Marcin Fijałkowski; Roman Nowicki; Leszek Kalinowski
Journal:  PLoS One       Date:  2017-11-02       Impact factor: 3.240

4.  Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.

Authors:  Dévora N Randon; Fernanda Sperb-Ludwig; Fernanda S L Vianna; Ana P P Becker; Carmen R Vargas; Angela Sitta; Alexia N Sant'Ana; Ida V D Schwartz; Fernanda H de Bitencourt
Journal:  Genet Mol Biol       Date:  2020-07-24       Impact factor: 1.771

  4 in total

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