Abstract
Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, predisposition to cancers, and a diverse variety of congenital malformations. At least eight complementation groups, A through H, have been described. Recently, the FA-A gene (FAA) has been isolated, and a large number of distinct mutations reported in ethnically diverse FA-A patients. Here, we report on the mutation analysis of five FA patients by single- strand conformation polymorphism. Out of five patients, at least three were found to have mutations in the FAA gene. The first patient was a compound heterozygote with a 1-bp deletion and a single-base substitution. The second patient had a heterozygous 2-bp deletion, which introduces a premature termination codon, and the third patient had a heterozygous splice donor site mutation in intron 27.
| Original language | English |
|---|---|
| Pages (from-to) | 48-51 |
| Number of pages | 4 |
| Journal | Journal of Human Genetics |
| Volume | 44 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1999 |
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Keywords
- Direct sequencing
- FAA gene
- Fanconi anemia
- Mutation
- Polymorphism
- SSCP
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. / Nakamura, Asako; Matsuura, Shinya; Tauchi, Hiroshi; Hanada, Ryoji; Ohashi, Hirofumi; Hasegawa, Tomonobu; Honda, Koujiro; Masuno, Mitsuo; Imaizumi, Kiyoshi; Sugita, Katsuo; Ide, Toshinori; Komatsu, Kenshi.
In: Journal of Human Genetics, Vol. 44, No. 1, 1999, p. 48-51.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients
AU - Nakamura, Asako
AU - Matsuura, Shinya
AU - Tauchi, Hiroshi
AU - Hanada, Ryoji
AU - Ohashi, Hirofumi
AU - Hasegawa, Tomonobu
AU - Honda, Koujiro
AU - Masuno, Mitsuo
AU - Imaizumi, Kiyoshi
AU - Sugita, Katsuo
AU - Ide, Toshinori
AU - Komatsu, Kenshi
PY - 1999
Y1 - 1999
N2 - Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, predisposition to cancers, and a diverse variety of congenital malformations. At least eight complementation groups, A through H, have been described. Recently, the FA-A gene (FAA) has been isolated, and a large number of distinct mutations reported in ethnically diverse FA-A patients. Here, we report on the mutation analysis of five FA patients by single- strand conformation polymorphism. Out of five patients, at least three were found to have mutations in the FAA gene. The first patient was a compound heterozygote with a 1-bp deletion and a single-base substitution. The second patient had a heterozygous 2-bp deletion, which introduces a premature termination codon, and the third patient had a heterozygous splice donor site mutation in intron 27.
AB - Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, predisposition to cancers, and a diverse variety of congenital malformations. At least eight complementation groups, A through H, have been described. Recently, the FA-A gene (FAA) has been isolated, and a large number of distinct mutations reported in ethnically diverse FA-A patients. Here, we report on the mutation analysis of five FA patients by single- strand conformation polymorphism. Out of five patients, at least three were found to have mutations in the FAA gene. The first patient was a compound heterozygote with a 1-bp deletion and a single-base substitution. The second patient had a heterozygous 2-bp deletion, which introduces a premature termination codon, and the third patient had a heterozygous splice donor site mutation in intron 27.
KW - Direct sequencing
KW - FAA gene
KW - Fanconi anemia
KW - Mutation
KW - Polymorphism
KW - SSCP
UR - http://www.scopus.com/inward/record.url?scp=6544235283&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=6544235283&partnerID=8YFLogxK
U2 - 10.1007/s100380050106
DO - 10.1007/s100380050106
M3 - Article
C2 - 9929978
AN - SCOPUS:6544235283
VL - 44
SP - 48
EP - 51
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 1
ER -