| Beispiel | | Beispiel | <section>
<templateId root="2.16.840.1.113883.10.20.20.1.9"/> <title>Test Information</title> <component>
<section>
<templateId root="2.16.840.1.113883.10.20.20.1.9.1"/> <title>Background</title> <text>
<list>
<item>
<content>
Mutations in the GJB2 (connexin 26) gene are the most common cause of
non syndromic hearing loss and are most often seen in a person with
hearing loss that was found in early childhood without any other medical
problems. The severity of the hearing loss can range from mild to profound.
The inheritance pattern is usually autosomal recessive, requiring two
mutations, one in each copy of the gene, to cause hearing loss. The GJB6-
D13S1830 deletion removes most of the GJB6 gene, which encodes the connexin
30 protein (Cx30). This deletion, when present in two copies or when
combined with a single connexin 26 mutation, causes hearing loss. Although
the frequency of mitochondrial hearing loss is unknown, studies suggest
that mitochondrial mutations play an important role in inherited and
acquired hearing impairment.
</content> </item> </list> </text> </section> </component> <component>
<section>
<templateId root="2.16.840.1.113883.10.20.20.1.9.2"/> <title>Methodology</title> <text>
<list>
<item>
<content>
Exon 1 and the coding region of exon 2 of the connexin 26 (GJB2) gene are
amplified using flanking primer sets. PCR products are sequenced using
an ABI fluorescence automatic DNA sequencer. This test does not detect
large deletions or mutations in non-coding regions that could affect
gene expression. This assay is greater than 99.9% accurate in detecting
mutations in the sequences analyzed. Polymerase chain reaction (PCR)
analysis is performed to detect the presence or absence of a deletion
spanning the GJB6-D13S1830 region of chromosome 13.
</content> </item> </list> </text> </section> </component> <component>
<section>
<templateId root="2.16.840.1.113883.10.20.20.1.9.3"/> <title>References</title> <text>
<list>
<item>
<content>
Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del
Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing
allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11.
</content> </item> <item>
<content>
Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness
Homepage. http://www.crg.es/deafness.
</content> </item> <item>
<content>
del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S,
Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E,
Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich
D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL,
Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and
evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus
in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73:
1452-1458.
</content> </item> <item>
<content>
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling
WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal
recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9.
</content> </item> <item>
<content>
Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in
patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg.
2001 Sep;127(9):1037-42.
</content> </item> <item>
<content>
Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants
and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med.
2002;4(4): 258-74.
</content> </item> <item>
<content>
Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated
with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8.
</content> </item> <item>
<content>
Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz
M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British
Asian families. J Med Genet. 2001 Aug;38(8):530-3.
</content> </item> <item>
<content>
Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1
(Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics
Information Resource (database online). http://www.genetests.org.
</content> </item> <item>
<content>
Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J,
Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P,
Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR,
Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin
M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz
M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M,
Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F,
Mondain M, Hoefsloot, LH Cremers CWRJ, Lopponen T, Lopponen H, Parving A,
Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G,
Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P,
Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation
for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57.
</content> </item> </list> </text> </section> </component></section> |
|
Entwurf
