Abstract：
:Type 1a glycogen storage disease (GSD) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Polymerase chain reaction (PCR) and nucleotide sequence analysis were used to identify the location and nature of mutations at the G6Pase locus in two siblings affected with type 1a GSD. Both patients are compound heterozygotes with two different single nucleotide substitutions in the two G6Pase alleles. A guanine to adenine transition was identified at base position 327 in the exon 2, converting an arginine to a histidine at codon 83. The second substitution was a thymine to adenine transversion at base position 1101 in the exon 5, converting an isoleucine to an asparagine at codon 341. Family study reveals that both parents are heterozygous carriers: the father with a mutant G6Pase allele at exon 2, the mother with another mutant G6Pase allele at exon 5. This is the first family study in Taiwan on type 1a GSD identified by molecular analysis. The mutations identified herein are novel substitutions in the G6Pase gene. In addition, an adenine to guanine substitution was observed at base position 653 in the exon 5 of G6Pase gene in both sibling patients and their parents, as well as in 15 normal Chinese subjects and three normal Caucasian subjects.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Lee WJ,Lee HM,Chi CS,Shu SG,Lin LY,Lin WHdoi
10.1111/j.1399-0004.1996.tb02627.xsubject
Has Abstractpub_date
1996-10-01 00:00:00pages
206-11issue
4eissn
0009-9163issn
1399-0004journal_volume
50pub_type
杂志文章abstract：:Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and t...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1992.tb03233.x
更新日期：1992-10-01 00:00:00
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journal_title：Clinical genetics
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更新日期：2013-09-01 00:00:00
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更新日期：2015-10-01 00:00:00
abstract：:Arrhythmogenic cardiomyopathy (ACM) is a familial cardiomyopathy featured by fibrofatty replacement of cardiomyocytes. Responsible genetic factors are not discernible in approximately one-third of ACM probands. To investigate this further, we performed whole genome sequencing in 14 mutation-negative ACM probands who u...
journal_title：Clinical genetics
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更新日期：1995-10-01 00:00:00
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journal_title：Clinical genetics
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更新日期：1977-04-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1984.tb01989.x
更新日期：1984-03-01 00:00:00
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journal_title：Clinical genetics
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更新日期：1982-07-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.2002.620512.x
更新日期：2002-11-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1975.tb01489.x
更新日期：1975-09-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2007.00855.x
更新日期：2007-09-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2004.00230.x
更新日期：2004-04-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1977.tb01324.x
更新日期：1977-05-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1992.tb03220.x
更新日期：1992-09-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12769
更新日期：2016-06-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.13666
更新日期：2020-03-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1994.tb03996.x
更新日期：1994-02-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1987.tb03339.x
更新日期：1987-08-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.2002.610606.x
更新日期：2002-06-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2004.00287.x
更新日期：2004-09-01 00:00:00
abstract：:Genetic modifiers of liver disease in cystic fibrosis Bartlett et al. (2009) The Journal of the American Medical Association 302: 1076-1083. ...
journal_title：Clinical genetics
pub_type： 评论,杂志文章
doi：10.1111/j.1399-0004.2009.01365_1.x
更新日期：2010-05-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1986.tb01900.x
更新日期：1986-11-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1981.tb00701.x
更新日期：1981-04-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12401
更新日期：2015-01-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1978.tb02057.x
更新日期：1978-07-01 00:00:00
abstract：:Non-syndromic deafness is a paradigm of genetic heterogeneity. More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non-syndromic deafness have been identified. Autosomal-dominant genes are responsible for about 20% of the cases of hereditary non-syndromic deafness, with 16 different genes i...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
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更新日期：2002-07-01 00:00:00
abstract：:Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyham syndrome, from two families with variant H-PRT mutations and three cell strains from patients with the Lesch-Nyham syn...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1977.tb01299.x
更新日期：1977-03-01 00:00:00
abstract：:Second trimester amniotic fluid samples obtained transabdominally for genetic analysis not infrequently are contaminated with blood. There has been disagreement as to whether blood contamination interferes with the efficiency of culture of amniotic fluid cells for genetic diagnosis. A procedure using ammonium chloride...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：
更新日期：1979-03-01 00:00:00
