Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH) | ||
| Iranian Journal of Basic Medical Sciences | ||
| مقاله 1، دوره 17، شماره 7، مهر 2014، صفحه 470-475 اصل مقاله (1.7 M) | ||
| نوع مقاله: Original Article | ||
| شناسه دیجیتال (DOI): 10.22038/ijbms.2014.3024 | ||
| نویسندگان | ||
| Seyyedha Abbas* 1؛ Abdul Khaliq Naveed2؛ Shakir Khan3؛ Muhammad Jawad Yousaf4؛ Zahid Azeem5؛ Suhail Razak6؛ Fatima Qaiser7 | ||
| 1Foundation University Medical College (FUMC), Islamabad, Pakistan | ||
| 2Army Medical College, National University of Sciences &Technology.Rawalpindi, Pakistan | ||
| 3Margalla Medical and Dental College, Islamabad, Pakistan | ||
| 4Army Medical College, National University of Sciences & Technology, Rawalpindi, Pakistan | ||
| 5AJK Medical College, Muzaffrahbad, AJK, Pakistan | ||
| 6Biochemistry and Molecular Biology,Army Medical College, National University of Sciences & Technology, Rawalpindi, Pakistan | ||
| 7Army Medical College, National University of Sciences and Technology, Rawalpindi, Pakistan | ||
| چکیده | ||
| Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was performed using 8% polyacrylamide gel. Candidate gene was sequenced after gene linkage supported at highly polymorphic microsatellite markers of the diseased region. Results: Both families were initially tested for linkage to known genes, which were involved in human hereditary hypotrichosis, by genotyping Highly polymorphic microsatellite markers. Family B showed partial linkage at P2RY5 gene on chromosome 13q14.11-q21.32; hence, all exonic regions and their introns boundaries were subjected to DNA sequencing for any pathogenic mutation. Conclusion:Both families were tested for linkage by genotyping polymorphic microsatellite markers linked to known alopecia loci. Family A excluded all known diseased regions that is suggestive of some novel chromosomal disorder. However, sequencing of P2RY5 gene in family B showed no pathogenic mutation. | ||
| کلیدواژهها | ||
| Alopecia؛ autosomal recessive؛ Hypo-trichosis؛ Genetics؛ P2RY5 gene؛ Pakistan | ||
| مراجع | ||
|
1.Modell B, Darr A. Science and society: genetic counselling and customary consanguineous marriage. Nat Rev Genet 2002; 3:225-229.
2. Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, et al. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessie woolly hair. Nat Genet 2008; 40:335–339.
3.Pasternack SM, Von Ku G, Aboud KA, Lee YA, Ruschendorf F, Voss K, Hillmer A , et al . G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet 2008; 40:329–334.
4.Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, et al. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. Br J Dermatol2009; 160:1006-1010.
5.Alkuraya FS . Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet Med 2010; 12:236-239.
6.Millar SE. Molecular mechanisms regulating hair follicle development. J Invest Dermatol 2002; 118:216–225.
7.Ahmad W, FaiyazulHaque M, Brancolin V, Lam H, Aita V M, Owen J, de Blaquiere M, t al . Alopecia universalis associated with a mutation in the human hairless gene. Science 1998; 279:720–724.
8.Sprecher E, Lestringant GG, Szargel R, Bergman R, Labay V, Frossard PM, et al.. Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene. J Invest Dermatol 1999; 113:687-690.
9.Bale SJ. Of hairless mice and men: the genetic basis of congenital alopecia universalis/congenital atrichia. J Cutan Med Surg 1999; 3:309-311.
10.Cichon S, Kruse R, Hillmer AM, Kukuk G, Anker M, Altland K,et al .A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family. Br J Dermatol 2000; 143:811-814.
11.Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, et al . Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 2003; 113:249-260.
12.Ayub M, Basit S, Jelani M, Ur Rehman FS, Iqbal M, Ahmad W. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet 2009; 85:515–520.
13.John P, Tariq M, ArshadRafiq M, Amin-Ud-Din M, Muhammad D, Waheed I, et al.Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.Arch Dermatol Res 2006; 298:135-137.
14.Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK 3rd,et al.Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation 2006; 74:129-40.
15.Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, et al.Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science 2006;314:982-985.
16.Aslam M, Chahrour MH, Razzaq A, Haque S, Yan K, Leal SM,et al. A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33–q27.3. J Med Genet 2004; 41:849–852.
17.Naz G, Ali G, Naqvi SK, Azeem Z, Ahmad W. Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.Hum Genet 2010; 127395-401.
18.Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.Clin Genet 2011; 79:273-281.
19.Bennett RL, Steinhaus KA, Uhrich SB, O’Sullivan C, Resta RG, Doyle DL. Recommendations for standardized pedigree nomenclature. Am J Hum Genet 1995; 56:745–752.
20.Sambrook J and Russell WD. Molecular Cloning: A Laboratory Manual. [Internet]. 3rd ed. Cold Spring Harbor Laboratory Press ISBN; 2001. p. 978-087969577-4. Availble from: http://nhjy.hzau.edu.cn/ kech/jycz/jczs/ml-introduc- tion/content.pdf.
21.Rozen S, Skaletsky H. Primer3 on the www
for general users and for biologist programmers. [internet]. Methods MolBiol 2000; 132:365-368. Availble from: http://www.flyrnai.org/ supplement/MMB-RosenSkaletsky.pdf.
22.Rozen S, Skaletsky H. Methods in Molecular Biology, vol.132: Bioinformatics Methods and Protocols. Totowa NJ: S Misener, Kawartz SA; Humana Press Inc; 2000.
23.Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, et al . Novel mutations in G protein coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet 2008; 123:515-519.
24.Ali G, Chishti MS, Raza SI, John P, Ahmad W. A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Hum Genet 2007; 121:319-325.
25.Dadkhah E, Ziaee M, Davari MH, Kazemi T, Abbaszadegan MR. Informative STR Markers for Marfan Syndrome in Birjand, Iran. Iran J Basic Med Sci 2012; 15:1020-1025.
26.Khorram-Khorshid HR, Manoochehri M, Nasehi L, Ohadi M, Rahgozar M, Kamali R.Ccr2-64i and Ccr5 Δ32 polymorphisms in patients with late-onset alzheimer's disease; A study from Iran (Ccr2-64i And Ccr5 Δ32 Polymorphisms in Alzheimer's disease). Iran J Basic Med Sci 2012; 15:937-944.
27.Wali A, Ali G, John P, Lee K, Chishti MS, Leal SM, et al. Mapping of a Gene for Alopecia with Mental Retardation Syndrome (APMR3) on Chromosome 18q11.2-q12.2. Ann Hum Genet 2007; 71:570–577.
28.Herzog H, Darby K, Hort YJ, Shine J. Intron 17 of the human retinoblastoma susceptibility gene encodes an actively tran-scribed G protein-coupled receptor gene. Genome Res 1996; 6:858–861. | ||
|
آمار تعداد مشاهده مقاله: 3,017 تعداد دریافت فایل اصل مقاله: 1,843 |
||