Molecular diagnosis of genetic disease
β Payne, Stewart J.
π Article
π
1997
π John Wiley and Sons
π English
β 3 KB
π 2 views
β¦ LIBER β¦
Fabry disease: Molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1
β Scribed by Caggana, Michele; Ashley, Grace A.; Desnick, Robert J.; Eng, Christine M.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 38 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970822)71:3<329::aid-ajmg14>3.0.co;2-m
No coin nor oath required. For personal study only.
β¦ Synopsis
Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism that results from the deficient activity of the lysosomal enzyme β£-galactosidase A (β£-Gal A). A rapid, reliable, and universal linkage method was developed for molecular carrier detection and prenatal diagnosis. By determining the informativeness and phase of amplifiable intragenic RFLPs (NcoI and SacI), flanking RFLPs (DXS94 and DXS17), and flanking microsatellite polymorphisms at Xq22.1 (DXS458, DXS454, DXS7424, DXS178, and DXS101), accurate carrier detection, and/or prenatal diagnosis was accomplished in three prototypic, unrelated Fabry families. All linkage diagnoses were confirmed by identification and analysis of the specific β£-Gal A lesion in each family. Thus, molecular carrier detection and prenatal diagnoses can be performed rapidly and reliably by linkage analysis with intragenic and closely-linked polymorphisms at Xq22.1 in Fabry families whose specific β£-Gal A lesions have not been determined.
π SIMILAR VOLUMES
Xq28-linked noncompaction of the left ve
β Bleyl, Steven B.; Mumford, Brian R.; Brown-Harrison, Mary-Carole; Pagotto, Lucia
π Article
π
1997
π John Wiley and Sons
π English
β 65 KB
π 2 views
Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent trabeculations and deep intertrabecular recesses within the left ventricle, sometimes also affecting the right ventricle and interventricular septum. Familial occurrence of this di
Molecular diagnosis of alkaptonuria muta
β Ramos, SebastiοΏ½n M.; HernοΏ½ndez, Mariano; Roces, Alfredo; Larruga, JosοΏ½ M.; GonzοΏ½
π Article
π
1998
π John Wiley and Sons
π English
β 15 KB
Alkaptonuria (AKU) is caused by lack of homogentisate 1, 2 dioxygenase (HGO) activity. From the complete sequence of a human HGO cDNA, primers were designed in order to obtain reverse transcription-polymerase chain reaction products from tissues with ectopic transcription amenable to diagnostic anal
Prenatal diagnosis of autosomal recessiv
β Zerres, Klaus; MοΏ½cher, Gabi; Becker, Jutta; Steinkamm, Carsten; Rudnik-SchοΏ½nebor
π Article
π
1998
π John Wiley and Sons
π English
β 67 KB
π 1 views
Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases and has a high infant mortality. Prenatal diagnosis using fetal sonography can be unreliable, especially in early pregnancy. The ARPKD locus has been mapped to proximal chromosome 6p allo
Segregation analysis of Parkinson diseas
β Zareparsi, Sepideh; Taylor, Todd D.; Harris, Emily L.; Payami, Haydeh
π Article
π
1998
π John Wiley and Sons
π English
β 35 KB
π 2 views
Parkinson disease (PD) is a prevalent movement disorder of unknown cause whose incidence rises with increasing age. Nearly 20% of PD is familial, a small subset of which exhibits autosomal dominant transmission. However, in most families, the inheritance is not clear. To determine the most likely mo
Glycogen storage disease type Ia: Molecu
β Akanuma, Jun; Nishigaki, Toshinori; Fujii, Kunihiro; Matsubara, Yoichi; Inui, Ko
π Article
π
2000
π John Wiley and Sons
π English
β 48 KB
Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of glucose-6-phosphatase (G6Pase) that is expressed in the liver, kidney, and intestinal mucosa. Clinical manifestations include short stature, hepatomegaly, hypoglycemia, hyper