The Prevalence of A985G Mutation in Medium Chain Acyl-Coenzyme A Dehydrogenase(MCAD) Gene in Neonates Determined from Guthrie Card |
Baeck Hee Lee1, Hye Won Park2, Moon Soo Park3, Ho Jin Park4, Yong Choi5, Hae Il Cheong5 |
1Department of Pediatrics, Dankook University Hospital 2Department of Pediatrics, Seoul City Boramae Hospital 3Department of Pediatrics, Sungkyunkwan University Kangbuk Samsung Hospital 4Department of Pediatrics, Seoul Red Cross Hospital 5Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea |
Guthrie Card를 이용한 신생아의 Medium Chain Acyl-Coenzyme A Dehydrogenase(MCAD) 유전자내 A985G 돌연변이 빈도에 대한 연구 |
이백희1, 박혜원2, 박문수3, 박호진4, 최용5, 정해일5 |
1단국대학교 의과대학 소아과학교실 2서울시립보라매병원 소아과 3성균관대학교 의과대학 강북삼성병원 소아과학교실 4서울적십자병원 소아과 5서울대학교 의과대학 소아과학교실 |
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Abstract |
Purpose : Medium chain acyl-CoA dehydrogenase(MCAD) deficiency is an autosomal recessive
disoder of β oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting,
convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye
syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and
survivors have significant risk of developmental disability and chronic somatic illness. However, the
high mortality and morbidity can be totally prevented by appropriate dietary management on the
basis of early and accurate diagnosis. Recently, a single point mutation (A985G) in the MCAD gene
has been described that accounts for most of MCAD deficiency. The prevalence of MCAD
deficiency shows marked racial differences. And population-based DNA screening for this
potentially fatal disorder might be justified in countries with high frequency of the mutation. The
prevalence of A985G mutation in the MCAD gene was studied in neonates using Guthrie cards for
neonatal screening.
Methods : Dried blood spots on Guthrie cards originally used for neonatal screening programs
obtained from 500 live newborn babies born in a private obstetric clinic or Seoul Red Cross
Hospital in Seoul during the period from Jan. 1, 1995 to Jul. 31, 1995 were collected. DNA was
extracted from the dried blood spots, and a segment of the MCAD gene was amplified from the
DNA using polymerase chain reaction technique. The PCR products were electrophoresed on a
polyacrylamide gel after treatment of a restriction enzyme, NcoI. And the restriction pattern was
analyzed with ethidium bromide staining of the gel.
Results : The PCR was successful with all DNAs from Guthrie cards. And the A to G transition
at nucleotide position 985 in the MCAD gene was not demonstrated in any of the specimen.
Conlusions :
1) The frequency of A985G mutation in the MCAD gene is extremely low in Korean population.
2) The methodology used in this study can be applied to population-based molecular genetic
studies for other hereditary diseases. |
Key Words:
MCAD deficiency, A985G mutation, MCAD gene, Guthrie card, Population genetics |
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