Download Genetic Disease Deadline #2

Genetic Disease Project
Names: Aaron Lu & Carter McCarroll
Disease
OMIM #
Protein
Symbol
Gene
location
Inheritance
DNA
sequence
Amino Acid
sequence
# of
specific
Allelic
variant
.0004
.0005
.0006
.0009
Prognosis –
Onset
Symptoms
Links
Lesch-Nyhan Syndrome
308000
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1
HPRT1
Xq26.2-q26.3
X-Linked Recessive
1
ATGGCGACCC GCAGCCCTGG
TTATTTTGCA TACCTAATCA
81 TTATGCTGAG GATTTGGAAA
ACGTCTTGCT CGAGATGTGA
161 TGAAGGAGAT GGGAGGCCAT
TCTTTGCTGA CCTGCTGGAT
241 TACATCAAAG CACTGAATAG
AGACTGAAGA GCTATTGTAA
321 TGACCAGTCA ACAGGGGACA
AAAGAATGTC TTGATTGTGG
401 AAGATATAAT TGACACTGGC
ATCCAAAGAT GGTCAAGGTC
481 GCAAGCTTGC TGGTGAAAAG
TTTGAAATTC CAGACAAGTT
561 TGTTGTAGGA TATGCCCTTG
CATTAGTGAA ACTGGAAAAG
641 CAAAATACAA AGCCTAA
1
matrspgvvi sddepgydld
61 hivalcvlkg gykffadlld
121 dlstltgknv livediidtg
181 feipdkfvvg yaldyneyfr
DNA change
CGTCGTGATT AGTGATGATG AACCAGGTTA TGACCTTGAT
GGGTGTTTAT TCCTCATGGA CTAATTATGG ACAGGACTGA
CACATTGTAG CCCTCTGTGT GCTCAAGGGG GGCTATAAAT
AAATAGTGAT AGATCCATTC CTATGACTGT AGATTTTATC
TAAAAGTAAT TGGTGGAGAT GATCTCTCAA CTTTAACTGG
AAAACAATGC AGACTTTGCT TTCCTTGGTC AGGCAGTATA
GACCCCACGA AGTGTTGGAT ATAAGCCAGA CTTTGTTGGA
ACTATAATGA ATACTTCAGG GATTTGAATC ATGTTTGTGT
lfcipnhyae
yikalnrnsd
ktmqtllslv
dlnhvcvise
Amino
Insertion of nucleotide T at
nucleotide number 56, 57, or
58 (CCTTGA  CCTTTGA)
Deletion of nucleotides 532609 (deletion of exon 8)
dlervfiphg limdrterla rdvmkemggh
rsipmtvdfi rlksycndqs tgdikviggd
rqynpkmvkv asllvkrtpr svgykpdfvg
tgkakyka
acid (protein change)
Nonsense, amino acid 20, Aspartic Acid,
replaced with a termination codon
Frameshift, amino acid 178, Phenylalanine,
through amino acid 203, Asparagine, are lost,
and premature protein truncation
T-to-C substitution at
Missense, amino acid 41, Leucine, replaced
nucleotide 122
with Proline
G-to-A substitution at
Missense, amino acid 194, Aspartic Acid,
nucleotide 580
replaced with Asparagine
There is no specific treatment for Lesch-Nyhan syndrome that exists. However,
medicine for treating gout can lower uric acid levels. Unfortunately,
treatment does not improve the nervous system outcome. People with this
syndrome usually need help walking and sitting. Most need a wheelchair. If
management of symptoms is effective, most individuals survive into their 20s
or 30s. Death is usually from aspiration pneumonia or complications of
nephrolithiasis. Sometimes there is sudden death of unknown cause.
3 – 12 months after birth, early urate crystal formation, resulting from
abnormally increased levels of uric acid in the urine, leads to the presence
of orange colored deposits.
Abnormal involuntary muscle movements such as tensing of various muscles
(dystonia), jerking movements (chorea), and flailing of the limbs
(ballismus). Those affected usually cannot walk. Self-injury is a common and
distinctive behavioral problem in individuals affected.
https://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome
http://patient.info/doctor/lesch-nyhan-syndrome