Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
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چکیده
منابع مشابه
Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene
Objective(s):To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. Materials and Methods: After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. Resul...
متن کاملThe Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations
Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. According to the studies, mutations in GJB2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...
متن کاملprenatal sex determination in suspicious cases of x-linked recessive diseases by the amelogenin gene
objective(s):to determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. materials and methods: after collection of 100 chorionic villi samples, the dnas were extracted and baby gender was determined. meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. results...
متن کاملStudy on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
متن کاملthe study of slc26a4 gene causing autosomal recessive hearing loss by linkage analysis in a cohort of iranian populations
sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. according to the studies, mutations in gjb2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1993
ISSN: 0021-9738
DOI: 10.1172/jci116467