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Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.

Abstract：

:Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients exhibit a deficiency of fructose 1-phosphate aldolase (aldolase B), the isozyme expressed in tissues that metabolize fructose. The eight protein-coding exons, including splicing signals, of the aldolase B gene from one HFI patient were amplified by PCR. Dot-blot hybridization of the amplified DNA with allele-specific oligonucleotide (ASO) probes revealed a previously described A149P mutation in one allele from the proband. The mutation in the other allele was identified by direct sequencing of the double-stranded PCR-amplified material from the proband. The nucleotide sequence of exon 9 revealed a 7-base deletion/1-base insertion (delta 7 + 1) at the 3' splice site of intron 8 in one allele. This mutation was confirmed by cloning PCR-amplified exon 9 of the proband and determining the sequence of each allele separately. ASO analysis of 18 family members confirmed the Mendelian inheritance of both mutant alleles. The implications of this unique splice-site mutation in HFI are discussed.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Brooks CC,Buist N,Tuerck J,Tolan DR

subject

Has Abstract

pub_date

1991-11-01 00:00:00

pages

1075-81

issue

5

eissn

0002-9297

issn

1537-6605

journal_volume

49

pub_type

杂志文章

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