Interchange heterozygotes versus homozygotes
نویسندگان
چکیده
منابع مشابه
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder characterized by radiosensitivity, genomic instability, and predisposition to cancer. A-T is caused by biallelic mutations in the ataxia-telangiectasia mutated (ATM) gene, but heterozygous carriers, though apparently healthy, are believed to be at increased risk for cancer and more sensitive to ionizing radiation t...
متن کاملAmplicon melting analysis with labeled primers: a closed-tube method for differentiating homozygotes and heterozygotes.
BACKGROUND Common methods for identification of DNA sequence variants use gel electrophoresis or column separation after PCR. METHODS We developed a method for sequence variant analysis requiring only PCR and amplicon melting analysis. One of the PCR primers was fluorescently labeled. After PCR, the melting transition of the amplicon was monitored by high-resolution melting analysis. Differen...
متن کاملSPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes
Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in SPINK2, encoding a serine protease inhibitor believed to target acrosin, the main sperm acrosomal protease. In accord with these f...
متن کاملEffects of temperature on the viabilities of homozygotes and heterozygotes for second chromosomes of Drosophila melanogaster.
B A N D (1963) has reported that in Drosophila melanoguster significant viability changes among random heterozygotes for lethal, semilethal and normal chromosomes could be induced when the same chromosome combinations were tested in wide and narrow temperature range conditions having a mean temperature of 25°C. In a study utilizing only lethal and normal chromosomes, TOBARI (1966) found that vi...
متن کاملVisualizing Chromosome Mosaicism and Detecting Ethnic Outliers by the Method of “Rare” Heterozygotes and Homozygotes (RHH)
We describe a novel approach for evaluating SNP genotypes of a genome-wide association scan to identify "ethnic outlier" subjects whose ethnicity is different or admixed compared to most other subjects in the genotyped sample set. Each ethnic outlier is detected by counting a genomic excess of "rare" heterozygotes and/or homozygotes whose frequencies are low (<1%) within genotypes of the sample...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Heredity
سال: 1976
ISSN: 0018-067X,1365-2540
DOI: 10.1038/hdy.1976.69