Objective To investigate the BRCA1 gene in hereditary breast and ovarian cancer, early onset breast cancer and sporadic ovarian cancer Methods The exons of 2, 11 and 20 of BRCA1 ...Objective To investigate the BRCA1 gene in hereditary breast and ovarian cancer, early onset breast cancer and sporadic ovarian cancer Methods The exons of 2, 11 and 20 of BRCA1 gene were analyzed Polymerase chain reaction single strand conformation analysis(PCR SSCP) and PCR SSCP combined by restriction enzymes were used to screen for mutations Mutations were further indentifed by sequencing. The loss of heterozygosity (LOH)were also investigated at the BRCA1 genetic loci D17S855 in 10 hereditary ovarian cancer Results A insertion mutation was detected in H7.“C” was inserted at nucleotide 797. It would result in truncation of the BRCA1 protein at codon 277. A missen mutation was detected in an early onset breast cancer(diagnosed at age 24). At nucleotide position 3732, the substitution of a “G” to a “C” in codon 1205 changes a Gly to a Arg. A missen mutation were also detected in three sporadic ovarian cancers. At nucleotide position 2051, the substitution of a “T” to a “G” in codon 644 changes a Cys to a Trp. H3 and H7 patients show LOH. Conclusions. BRCA1 gene has an important effect in Chinese hereditary breast and ovarian cancer, its effect on early onset breast cancer and sporadic ovarian cancer are still to be studied. BRCA1 gene is a tumor suppressor gene.展开更多
Objectives To evaluate the relationship between microdeletion or mutation on the Y chromosome and Chinese patients with idiopathic azoospermia and severe oligozoospermia and to establish a molecular detection method....Objectives To evaluate the relationship between microdeletion or mutation on the Y chromosome and Chinese patients with idiopathic azoospermia and severe oligozoospermia and to establish a molecular detection method.Methods Microdeletion or mutation detection at the AZFa (sY84 and USP9Y), AZFb, AZFc/DAZ and SRY regions of the Y chromosome. Seventy-three azoospermia and 28 severe oligozoospermia patients were evaluated using PCR and PCR-SSCP techniques.Results Twelve of 101 patients (12%) with the AZFc/DAZ microdeletion were found, including 8 with azoospermia (11%) and 4 with severe oligozoospermia (14.3%), and 1 patient had a AZFb and AZFc/DAZ double deletion. No deletions in the AZFa or SRY regions were found. No deletions in AZFa, AZFb, AZFc/DAZ or SRY regions were found in 60 normal men who had produced one or more children.Conclusions Microdeletion on the Y chromosome, especially at its AZFc/DAZ regions, may be a major cause of azoospermia and severe oligozoospermia leading to male infertility in China. It is recommended that patients have genetic counseling and microdeletion detection on the Y chromosome before intracytoplasmic sperm injection.展开更多
文摘Objective To investigate the BRCA1 gene in hereditary breast and ovarian cancer, early onset breast cancer and sporadic ovarian cancer Methods The exons of 2, 11 and 20 of BRCA1 gene were analyzed Polymerase chain reaction single strand conformation analysis(PCR SSCP) and PCR SSCP combined by restriction enzymes were used to screen for mutations Mutations were further indentifed by sequencing. The loss of heterozygosity (LOH)were also investigated at the BRCA1 genetic loci D17S855 in 10 hereditary ovarian cancer Results A insertion mutation was detected in H7.“C” was inserted at nucleotide 797. It would result in truncation of the BRCA1 protein at codon 277. A missen mutation was detected in an early onset breast cancer(diagnosed at age 24). At nucleotide position 3732, the substitution of a “G” to a “C” in codon 1205 changes a Gly to a Arg. A missen mutation were also detected in three sporadic ovarian cancers. At nucleotide position 2051, the substitution of a “T” to a “G” in codon 644 changes a Cys to a Trp. H3 and H7 patients show LOH. Conclusions. BRCA1 gene has an important effect in Chinese hereditary breast and ovarian cancer, its effect on early onset breast cancer and sporadic ovarian cancer are still to be studied. BRCA1 gene is a tumor suppressor gene.
文摘Objectives To evaluate the relationship between microdeletion or mutation on the Y chromosome and Chinese patients with idiopathic azoospermia and severe oligozoospermia and to establish a molecular detection method.Methods Microdeletion or mutation detection at the AZFa (sY84 and USP9Y), AZFb, AZFc/DAZ and SRY regions of the Y chromosome. Seventy-three azoospermia and 28 severe oligozoospermia patients were evaluated using PCR and PCR-SSCP techniques.Results Twelve of 101 patients (12%) with the AZFc/DAZ microdeletion were found, including 8 with azoospermia (11%) and 4 with severe oligozoospermia (14.3%), and 1 patient had a AZFb and AZFc/DAZ double deletion. No deletions in the AZFa or SRY regions were found. No deletions in AZFa, AZFb, AZFc/DAZ or SRY regions were found in 60 normal men who had produced one or more children.Conclusions Microdeletion on the Y chromosome, especially at its AZFc/DAZ regions, may be a major cause of azoospermia and severe oligozoospermia leading to male infertility in China. It is recommended that patients have genetic counseling and microdeletion detection on the Y chromosome before intracytoplasmic sperm injection.
