A 4-base pair deletion mutation of Gsα gene in a Japanese patient with pseudohypoparathyroidism

1996 ◽  
Vol 19 (4) ◽  
pp. 236-241 ◽  
Author(s):  
M. Yokoyama ◽  
Kyoko Takeda ◽  
K. Iyota ◽  
T. Okabayashi ◽  
K. Hashimoto
Keyword(s):  
Base Pair ◽  
Japanese Patient ◽  
Deletion Mutation ◽  
Base Pair Deletion ◽  
Gsα Gene

scholarly journals Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype

2009 ◽  
Vol 182 (6) ◽  
pp. 3902-3918 ◽  
Author(s):  
François-Xavier Hubert ◽  
Sarah A. Kinkel ◽  
Pauline E. Crewther ◽  
Ping Z. F. Cannon ◽  
Kylie E. Webster ◽  
...  
Keyword(s):  
Base Pair ◽  
Deletion Mutation ◽  
Base Pair Deletion ◽  
The Common

A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria

2002 ◽  
Vol 102 (5) ◽  
pp. 501-506 ◽  
Author(s):  
Yumiko YASUI ◽  
Shikibu MURANAKA ◽  
Tsuyoshi TAHARA ◽  
Ryo SHIMIZU ◽  
Sonoko WATANABE ◽  
...  
Keyword(s):  
Base Pair ◽  
Japanese Patient ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Amino Acid Position ◽  
Molecular Defect ◽  
Wild Type ◽  
Erythropoietic Protoporphyria ◽  
Base Pair Deletion ◽  
Low Expression

We investigated the molecular defect of the ferrochelatase gene in a Japanese patient with erythropoietic protoporphyria (EPP), and identified a novel 16 base pair (574-589) deletion within exon 5. This deletion resulted in a frame-shift mutation and created a premature stop codon at amino acid position 198. The same molecular defect was also identified in his mother and a brother who had symptomatic EPP, but not in his father who was asymptomatic. The subjects with EPP were homozygous for the low expression haplotype, while his father was heterozygous for this haplotype. These results indicate that the combination of a 16 base pair deletion and low expression of the wild-type allelic variant is responsible for EPP in this pedigree.

A NOVEL 4 BASE PAIR DELETION MUTATION INDUCING TYPE I ANTITHROMBIN DEFICIENCY

1997 ◽  
Vol 85 (6) ◽  
pp. 515-517 ◽  
Author(s):  
Tetsuo Ozawa ◽  
Kenji Niiya ◽  
Nanako Inoue ◽  
Nobuaki Kawahara ◽  
Mikiya Nakatsuka ◽  
...  
Keyword(s):  
Base Pair ◽  
Deletion Mutation ◽  
Type I ◽  
Antithrombin Deficiency ◽  
Base Pair Deletion

A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibα gene in a patient with Bernard–Soulier syndrome

2009 ◽  
Vol 20 (6) ◽  
pp. 470-474 ◽  
Author(s):  
Chihaya Imai ◽  
Shinji Kunishima ◽  
Takayuki Takachi ◽  
Haruko Iwabuchi ◽  
Tae Nemoto ◽  
...  
Keyword(s):  
Base Pair ◽  
Deletion Mutation ◽  
Base Pair Deletion ◽  
Bernard Soulier Syndrome

Detection of the Glanzmann's Thrombasthenia Mutations in Arab and Iraqi-Jewish Patients by Polymerase Chain Reaction and Restriction Analysis of Blood or Urine Samples

1991 ◽  
Vol 66 (04) ◽  
pp. 500-504 ◽  
Author(s):  
H Peretz ◽  
U Seligsohn ◽  
E Zwang ◽  
B S Coller ◽  
P J Newman
Keyword(s):  
Polymerase Chain Reaction ◽  
Base Pair ◽  
Restriction Analysis ◽  
Urine Samples ◽  
Chain Reaction ◽  
Base Pairs ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Base Pair Deletion ◽  
Polymerase Chain

SummarySevere Glanzmann's thrombasthenia is relatively frequent in Iraqi-Jews and Arabs residing in Israel. We have recently described the mutations responsible for the disease in Iraqi-Jews – an 11 base pair deletion in exon 12 of the glycoprotein IIIa gene, and in Arabs – a 13 base pair deletion at the AG acceptor splice site of exon 4 on the glycoprotein IIb gene. In this communication we show that the Iraqi-Jewish mutation can be identified directly by polymerase chain reaction and gel electrophoresis. With specially designed oligonucleotide primers encompassing the mutation site, an 80 base pair segment amplified in healthy controls was clearly distinguished from the 69 base pair segment produced in patients. Patients from 11 unrelated Iraqi-Jewish families had the same mutation. The Arab mutation was identified by first amplifying a DNA segment consisting of 312 base pairs in controls and of 299 base pairs in patients, and then digestion by a restriction enzyme Stu-1, which recognizes a site that is absent in the mutant gene. In controls the 312 bp segment was digested into 235 and 77 bp fragments, while in patients there was no change in the size of the amplified 299 bp segment. The mutation was found in patients from 3 out of 5 unrelated Arab families. Both Iraqi-Jewish and Arab mutations were detectable in DNA extracted from blood and urine samples. The described simple methods of identifying the mutations should be useful for detection of the numerous potential carriers among the affected kindreds and for prenatal diagnosis using DNA extracted from chorionic villi samples.

Mutation Spectrum in Patients with Wiskott-Aldrich Syndrome and X-linked Thrombocytopenia: Identification of Twelve Different Mutations in the WASP Gene

1996 ◽  
Vol 75 (04) ◽  
pp. 546-550 ◽  
Author(s):  
Marianne Schwartz ◽  
Albert Békássy ◽  
Mikael Donnér ◽  
Thomas Hertel ◽  
Stefan Hreidarson ◽  
...  
Keyword(s):  
Base Pair ◽  
Hot Spot ◽  
Missense Mutations ◽  
Nucleotide Substitutions ◽  
Exon 2 ◽  
Wiskott Aldrich Syndrome ◽  
Base Pair Deletion ◽  
Reliable Diagnosis ◽  
Wasp Gene ◽  
Detection Of Mutations

SummaryTwelve different mutations in the WASP gene were found in twelve unrelated families with Wiskott-Aldrich syndrome (WAS) or X-linked thrombocytopenia (XLT). Four frameshift, one splice, one nonsense mutation, and one 18-base-pair deletion were detected in seven patients with WAS. Only missense mutations were found in five patients diagnosed as having XLT. One of the nucleotide substitutions in exon 2 (codon 86) results in an Arg to Cys replacement. Two other nucleotide substitutions in this codon, R86L and R86H, have been reported previously, both giving rise to typical WAS symptoms, indicating a mutational hot spot in this codon. The finding of mutations in the WASP gene in both WAS and XLT gives further evidence of these syndromes being allelic. The relatively small size of the WASP gene facilitates the detection of mutations and a reliable diagnosis of both carriers and affected fetuses in families with WAS or XLT.

scholarly journals A New 2–Base Pair Deletion in the RPGR Gene in a Black Family With X-Linked Retinitis Pigmentosa

1998 ◽  
Vol 116 (2) ◽  
Author(s):  
Gerald A. Fishman ◽  
Sandeep Grover ◽  
Monika Buraczynska ◽  
Weiping Wu ◽  
Anand Swaroop
Keyword(s):  
Retinitis Pigmentosa ◽  
Base Pair ◽  
Black Family ◽  
Base Pair Deletion
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