Q188R K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility

被引:3
作者
Bajalo, JL
Mencej, S
Karas, N
Mlinar, B
Zitnik, IP
Gersak, K
机构
[1] Univ Ljubljana, Dept Clin Biochem, Fac Pharm, Ljubljana 1000, Slovenia
[2] Univ Ljubljana, Ctr Med, Dept Obstet & Gynecol, Ljubljana, Slovenia
关键词
D O I
10.1016/j.fertnstert.2004.10.029
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
In a retrospective case-control study, the frequencies of Q188R, K285N, N314D, and IVS5-24G > A mutations were determined with the use of polymerase chain reaction and restriction fragment length polymorphism in the group of infertile women and the controls. No statistically significant differences were observed in the allele frequencies between the infertile women and control groups. (c) 2005 by American Society for Reproductive Medicine.
引用
收藏
页码:776 / 778
页数:3
相关论文
共 13 条
[1]  
CRAMER DW, 1989, FERTIL STERIL, V51, P609
[2]  
*GALT DH, GAL 1 PHOSPH UR MUT
[3]   GONADAL-FUNCTION IN GALACTOSEMICS AND IN GALACTOSE-INTOXICATED ANIMALS [J].
GIBSON, JB .
EUROPEAN JOURNAL OF PEDIATRICS, 1995, 154 (07) :S14-S20
[4]   Risk factors for premature ovarian failure in females with galactosemia [J].
Guerrero, NV ;
Singh, RH ;
Manatunga, A ;
Berry, GT ;
Steiner, RD ;
Elsas, LJ .
JOURNAL OF PEDIATRICS, 2000, 137 (06) :833-841
[5]   Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract [J].
Karas, N ;
Gobec, L ;
Pfeifer, V ;
Mlinar, B ;
Battelino, T ;
Lukac-Bajalo, J .
JOURNAL OF INHERITED METABOLIC DISEASE, 2003, 26 (07) :699-704
[6]  
KAUFMAN FR, 1993, FERTIL STERIL, V60, P727
[7]   Frequencies of Q188R and N314D Mutations and IVS5-24G>A Intron Variation in the Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in the Slovenian Population [J].
Lukac-Bajalo, Jana ;
Marc, Janja ;
Mlinar, Barbara ;
Karas, Natasa ;
Krzisnik, Ciril ;
Battelino, Tadej .
CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2002, 40 (11) :1109-1113
[8]   A SIMPLE SALTING OUT PROCEDURE FOR EXTRACTING DNA FROM HUMAN NUCLEATED CELLS [J].
MILLER, SA ;
DYKES, DD ;
POLESKY, HF .
NUCLEIC ACIDS RESEARCH, 1988, 16 (03) :1215-1215
[9]  
*QIAG QIAAMP, 2000, DNA MID KIT QIAAMP D
[10]  
Segal S., 1995, METABOLIC MOL BASIS, P967